Curator Name UniProt ID NCBI Gene ID Gene Name Species Name Taxonomy ID Data Type Data Value GO Term GO ID Uberon Term Uberon ID BRENDA Tissue Ontology Term BRENDA Tissue Ontology ID Anatomy Ontology Term Anatomy Ontology ID Phenotype Ontology Term Phenotype Ontology ID Developmental Stage Term (BRENDA) Developmental Stage ID (BRENDA) Cell Type Ontology Term (CTO or CL) Cell Type Ontology ID (CTO or CL) Cell Line Ontology Term (CLO) Cell Line Ontology ID (CLO) PATO Qualifier PATO ID OMIM ID Human Disease Ontology Term Human Disease Ontology ID SNOMED Term SNOMED ID ChEBI Chemical Term ChEBI Chemical ID Secondary Source IDs Secondary Source Notes Reviewed (Y/N) Use (Y/N) Evidence Code Primary Source Secondary Source PENTACON Notes Gene Set Secondary Source Version Date Secondary Source Version PENTACON Annotation No curatus P24752 38 ACAT1 Homo sapiens 9606 Comment/alternative products/isoform P24752-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 141 1100000246 curatus P18054 239 ALOX12 Homo sapiens 9606 Comment/alternative products/isoform P18054-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, AAP-M 1/9/2013 143 1100000266 curatus P05177 1544 CYP1A2 Homo sapiens 9606 Comment/alternative products/isoform P05177-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP, DGA, ASD 11/28/2012 140 1100000330 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Comment/alternative products/isoform P10632-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 11/28/2012 150 1100000331 curatus P11712 1559 CYP2C9 Homo sapiens 9606 Comment/alternative products/isoform P11712-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 152 1100000332 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Comment/alternative products/isoform P10635-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 1/9/2013 146 1100000333 curatus P51589 1573 CYP2J2 Homo sapiens 9606 Comment/alternative products/isoform P51589-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 121 1100000334 curatus P08684 1576 CYP3A4 Homo sapiens 9606 Comment/alternative products/isoform P08684-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 154 1100000335 curatus Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/alternative products/isoform Q02928-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 11/28/2012 121 1100000337 curatus P34913 2053 EPHX2 Homo sapiens 9606 Comment/alternative products/isoform P34913-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 131 1100000355 curatus P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-1;Isoform 1 Produced by alternative promoter usage. Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 11/28/2012 148 1100000375 curatus Q16647 5740 PTGIS Homo sapiens 9606 Comment/alternative products/isoform Q16647-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, AAP-M, ASD 2/6/2013 129 1100000504 curatus P35354 5743 PTGS2 Homo sapiens 9606 Comment/alternative products/isoform P35354-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, AAP-M, ASD 2/6/2013 143 1100000505 curatus P78329 8529 CYP4F2 Homo sapiens 9606 Comment/alternative products/isoform P78329-1;Isoform 1 Y Y UniProtKB full length AAP, DGA, ASD 11/28/2012 125 1100000573 curatus Q16873 4056 LTC4S Homo sapiens 9606 Comment/alternative products/isoform Q16873-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 116 1100000710 curatus Q9Y5X9 9388 LIPG Homo sapiens 9606 Comment/alternative products/isoform Q9Y5X9-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 11/28/2012 117 1100000744 curatus P20292 241 ALOX5AP Homo sapiens 9606 Comment/alternative products/isoform P20292-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 113 1100000769 curatus P04180 3931 LCAT Homo sapiens 9606 Comment/alternative products/isoform P04180-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA 11/28/2012 141 1100000796 curatus P33261 1557 CYP2C19 Homo sapiens 9606 Comment/alternative products/isoform P33261-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 125 1100000801 curatus P07203 2876 GPX1 Homo sapiens 9606 Comment/alternative products/isoform P07203-1;Isoform 1 Y Y UniProtKB full length AAP, DGA, ASD 2/6/2013 155 1100000817 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-1;Isoform 1;Allexons Y Y UniProtKB full length AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000875 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-2;Isoform 2;Delexon-17 VSP_000037 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000876 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-3;Isoform 3;Delexon-18 VSP_000038 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000877 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-4;Isoform 4;Delexon-30 VSP_000039 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000878 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-5;Isoform 5;Delexon-17-18 VSP_000037 VSP_000038 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000879 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-6;Isoform 6;Delexon-17-30 VSP_000037 VSP_000039 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000880 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-7;Isoform 7;Delexon-18-30 VSP_000038 VSP_000039 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000881 Rose P33527 4363 ABCC1 Homo sapiens 9606 Comment/alternative products/isoform P33527-8;Isoform 8;Delexon-17-18-30 VSP_000037 VSP_000038 VSP_000039 Y Y UniProtKB AAP, DGA, AAP-M, ASD 5/1/2013 139 1100000882 Rose O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-1;Isoform 1 Y Y UniProtKB full length AAP, AAP-M, ASD 5/1/2013 126 1100000884 Rose O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-2;Isoform 2 VSP_035426 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 1100000885 Rose Q9H845 28976 ACAD9 Homo sapiens 9606 Comment/alternative products/isoform Q9H845-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 109 1100000887 Rose Q86TX2 641371 ACOT1 Homo sapiens 9606 Comment/alternative products/isoform Q86TX2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 87 1100000888 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-1;Isoform 1;BFIT1 Y Y UniProtKB full length AAP 5/1/2013 113 1100000889 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Comment/alternative products/isoform Q8WXI4-2;Isoform 2;BFIT2 VSP_000160 Y Y UniProtKB AAP 5/1/2013 113 1100000890 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Comment/alternative products/isoform Q9NPJ3-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 5/29/2013 101 1100000891 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/alternative products/isoform P49753-1;Isoform 1 Y Y UniProtKB full length AAP 5/29/2013 127 1100000893 Faith P49753 10965 ACOT2 Homo sapiens 9606 Comment/alternative products/isoform P49753-2;Isoform 2 VSP_012225 VSP_012226 Y Y UniProtKB AAP 5/29/2013 127 1100000894 Rose Q8N9L9 122970 ACOT4 Homo sapiens 9606 Comment/alternative products/isoform Q8N9L9-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 5/1/2013 92 1100000895 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-1;Isoform 1;HBACHb Y Y UniProtKB full length AAP, ASD 6/26/2013 124 1100000896 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-2;Isoform 2;hBACHa-X VSP_000152 VSP_000155 VSP_000156 Y Y UniProtKB AAP, ASD 6/26/2013 124 1100000897 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-3;Isoform 3;hBACHa-Xi VSP_000152 VSP_000154 Y Y UniProtKB AAP, ASD 6/26/2013 124 1100000898 curatus O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-4;Isoform 4;hBACHa Y Y Major Isoform AAP, ASD 1100000899 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-5;Isoform 5;hBACHc VSP_000151 Y Y UniProtKB AAP, ASD 6/26/2013 124 1100000900 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-6;Isoform 6;hBACHd VSP_000153 Y Y UniProtKB AAP, ASD 6/26/2013 124 1100000901 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-7;Isoform 7 VSP_047094 Y Y UniProtKB AAP, ASD 6/26/2013 124 1100000902 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/alternative products/isoform O14734-1;Isoform 1 Y Y UniProt-derived N ver_2full length (doesn't exist in UniProtKB) AAP 5/29/2013 124 1100000903 Rose P33121 2180 ACSL1 Homo sapiens 9606 Comment/alternative products/isoform P33121-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP, AAP-M, ASD 1/9/2013 123 1100000905 Rose O95573 2181 ACSL3 Homo sapiens 9606 Comment/alternative products/isoform O95573-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, AAP-M, ASD 1/9/2013 115 1100000906 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/alternative products/isoform O60488-1;Isoform Long Y Y ECO:0000311 UniProtKB full length AAP, AAP-M, ASD 11/28/2012 131 1100000907 Mike O60488 2182 ACSL4 Homo sapiens 9606 Comment/alternative products/isoform O60488-2;Isoform Short VSP_000238 Y Y ECO:0000311 UniProtKB AAP, AAP-M, ASD 11/28/2012 131 1100000908 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-1;Isoform 1;ACSL5-fl Localize in mitochondrion and endoplasmic reticulum. Y Y ECO:0000311 UniProtKB TBU full length; subcellular localization AAP, AAP-M 11/28/2012 121 1100000909 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-4;Isoform 3;ACSL5delta20 VSP_038233 Localize in mitochondrion and endoplasmic reticulum. Y Y ECO:0000311 UniProtKB TBU TBU subcellular localization AAP, AAP-M 11/28/2012 121 1100000910 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Comment/alternative products/isoform Q9ULC5-3;Isoform 2;ACSL5a VSP_037947 Y Y ECO:0000311 UniProtKB TBU AAP, AAP-M 11/28/2012 121 1100000911 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-4;Isoform 4 Y Y UniProtKB AAP, AAP-M, ASD 6/26/2013 124 1100000912 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-1;Isoform 1;v2 VSP_037819 Y Y UniProtKB full length AAP, AAP-M, ASD 6/26/2013 124 1100000913 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-5;Isoform 5;v4 VSP_037823 Y Y UniProtKB AAP, AAP-M, ASD 6/26/2013 124 1100000915 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-6;Isoform 6;v5 VSP_037821 Y Y UniProtKB AAP, AAP-M, ASD 6/26/2013 124 1100000916 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-7;Isoform 7;v3 VSP_037820 VSP_037822 Y Y UniProtKB AAP, AAP-M, ASD 6/26/2013 124 1100000917 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Comment/alternative products/isoform O15120-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 1/9/2013 119 1100000922 Rose Q9NRZ5 56895 AGPAT4 Homo sapiens 9606 Comment/alternative products/isoform Q9NRZ5-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 102 1100000923 Rose Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Comment/alternative products/isoform Q9NUQ2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 97 1100000924 Rose P15121 231 AKR1B1 Homo sapiens 9606 Comment/alternative products/isoform P15121-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 157 1100000925 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Comment/alternative products/isoform P42330-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 142 1100000926 Rose O75342 242 ALOX12B Homo sapiens 9606 Comment/alternative products/isoform O75342-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 116 1100000927 Rose P16050 246 ALOX15 Homo sapiens 9606 Comment/alternative products/isoform P16050-1;Isoform 1 Y Y UniProt-derived full length AAP, DGA, ASD 11/28/2012 139 1100000928 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-1;Isoform A;15-LOb1 Y Y ECO:0000311 UniProtKB N ver_2full length AAP 11/28/2012 125 1100000929 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-2;Isoform B;15-LOX2sv-b VSP_003142 VSP_003143 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1100000930 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-3;Isoform C;15-LOX2sv-c VSP_003144 VSP_003145 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 125 1100000931 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-4;Isoform D;15-LOX2sv-a; 15-LOb2 VSP_003142 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 125 1100000932 Rose P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, AAP-M, ASD 11/28/2012 143 1100000933 Katie Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Comment/alternative products/isoform Q9BYJ1-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP 11/28/2012 104 1100000935 Rose Q6E213 158835 AWAT2 Homo sapiens 9606 Comment/alternative products/isoform Q6E213-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 10/31/2012 72 1100000936 Rose Q14032 570 BAAT Homo sapiens 9606 Comment/alternative products/isoform Q14032-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 5/1/2013 102 1100000937 Rose P16152 873 CBR1 Homo sapiens 9606 Comment/alternative products/isoform P16152-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 147 1100000938 Rose O75828 874 CBR3 Homo sapiens 9606 Comment/alternative products/isoform O75828-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 115 1100000939 Rose P04798 1543 CYP1A1 Homo sapiens 9606 Comment/alternative products/isoform P04798-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 152 1100000940 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Comment/alternative products/isoform P05177-2;Isoform 2 VSP_017123 Y Y ECO:0000311 UniProtKB AAP, DGA, ASD 11/28/2012 140 1100000941 Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Comment/alternative products/isoform Q16678-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 148 1100000942 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Comment/alternative products/isoform P20813-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 143 1100000943 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Comment/alternative products/isoform P33260-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 11/28/2012 116 1100000945 Rose P05181 1571 CYP2E1 Homo sapiens 9606 Comment/alternative products/isoform P05181-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 144 1100000948 Faith Q7Z449 113612 CYP2U1 Homo sapiens 9606 Comment/alternative products/isoform Q7Z449-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 94 1100000950 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/alternative products/isoform Q02928-2;Isoform 2 VSP_034595 Y Y ECO:0000311 UniProtKB TBU AAP, DGA, ASD 11/28/2012 121 1100000951 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/alternative products/isoform Q5TCH4-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 75 1100000952 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Comment/alternative products/isoform Q5TCH4-2;Isoform 2 VSP_034584 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 75 1100000953 Rose Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Comment/alternative products/isoform Q9HBI6-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 112 1100000954 Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Comment/alternative products/isoform Q6NT55-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 84 1100000955 Rose Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/alternative products/isoform Q08477-1;Isoform CYP4F3A Y Y UniProtKB N ver_2full length AAP 11/28/2012 129 1100000956 Rose P98187 11283 CYP4F8 Homo sapiens 9606 Comment/alternative products/isoform P98187-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 106 1100000957 Rose Q9Y271 10800 CYSLTR1 Homo sapiens 9606 Comment/alternative products/isoform Q9Y271-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 103 1100000958 Rose Q9NS75 57105 CYSLTR2 Homo sapiens 9606 Comment/alternative products/isoform Q9NS75-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 107 1100000959 Rose P16444 1800 DPEP1 Homo sapiens 9606 Comment/alternative products/isoform P16444-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 143 1100000960 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Comment/alternative products/isoform Q9H4A9-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 83 1100000962 Rose Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Comment/alternative products/isoform Q9NXB9-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 4/3/2013 90 1100000963 Faith Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Comment/alternative products/isoform Q9NYP7-1;Isoform 1 Y Y UniProtKB full length AAP 4/3/2013 94 1100000964 Rose O60427 3992 FADS1 Homo sapiens 9606 Comment/alternative products/isoform O60427-1;Isoform 1;FADS1CS Y Y UniProtKB N ver_2full length AAP, ASD 5/1/2013 108 1100000967 Rose O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-1;Isoform 1 Y Y UniProtKB full length AAP, DGA, ASD 5/1/2013 101 1100000968 Rose O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-2;Isoform 2 VSP_028568 Y Y UniProtKB AAP, DGA, ASD 5/1/2013 101 1100000969 Faith Q8TBF2 127281 FAM213B Homo sapiens 9606 Comment/alternative products/isoform Q8TBF2-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 2/6/2013 83 1100000977 Rose P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-2;Isoform 2 VSP_001746 VSP_001747 Produced by alternative splicing of isoform 1. Y Y ECO:0000311 UniProtKB TBU AAP, DGA, ASD 11/28/2012 148 1100000979 Rose P36269 2687 GGT5 Homo sapiens 9606 Comment/alternative products/isoform P36269-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 2/6/2013 124 1100000982 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/alternative products/isoform Q6P531-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 69 1100000983 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Comment/alternative products/isoform Q6P531-2;Isoform 2 VSP_030451 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 69 1100000984 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-1;Isoform 1;a Gene prediction confirmed by EST data. Y Y ECO:0000311 UniProtKB TBU full length AAP 1/9/2013 101 1100000985 Katie Q9UJ14 2686 GGT7 Homo sapiens 9606 Comment/alternative products/isoform Q9UJ14-5;Isoform 3;B VSP_008136 VSP_008137 Y Y ECO:0000311 UniProtKB TBU AAP 1/9/2013 101 1100000988 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/alternative products/isoform Q13304-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 4/3/2013 104 1100000989 Faith Q13304 2840 GPR17 Homo sapiens 9606 Comment/alternative products/isoform Q13304-2;Isoform 2 VSP_001987 Y Y UniProtKB AAP, ASD 4/3/2013 104 1100000990 Rose P18283 2877 GPX2 Homo sapiens 9606 Comment/alternative products/isoform P18283-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 127 1100000991 Rose P22352 2878 GPX3 Homo sapiens 9606 Comment/alternative products/isoform P22352-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 138 1100000992 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/alternative products/isoform P36969-1;Isoform Mitochondrial Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 11/28/2012 137 1100000993 Katie P36969 2879 GPX4 Homo sapiens 9606 Comment/alternative products/isoform P36969-2;Isoform Cytoplasmic VSP_018740 Y Y ECO:0000311 UniProtKB TBU Reviewed by Faith AAP, DGA, ASD 11/28/2012 137 1100000994 Mike O75715 2880 GPX5 Homo sapiens 9606 Comment/alternative products/isoform O75715-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 11/28/2012 110 1100000996 Rose P59796 257202 GPX6 Homo sapiens 9606 Comment/alternative products/isoform P59796-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 84 1100000997 Rose Q96SL4 2882 GPX7 Homo sapiens 9606 Comment/alternative products/isoform Q96SL4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 105 1100000998 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-2;Isoform 2 VSP_043032 Y Y ECO:0000311 UniProtKB TBU TBU Reviewed by Rose AAP, ASD 2/6/2013 135 1100000999 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP, ASD 2/6/2013 135 1100001000 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-3;Isoform 3 VSP_045106 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 2/6/2013 135 1100001001 Katie P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-4;Isoform 4 VSP_045107 VSP_045108 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 2/6/2013 135 1100001002 Rose O60760 27306 HPGDS Homo sapiens 9606 Comment/alternative products/isoform O60760-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 124 1100001003 Rose P38571 3988 LIPA Homo sapiens 9606 Comment/alternative products/isoform P38571-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 128 1100001005 curatus Q05469 3991 LIPE Homo sapiens 9606 Comment/alternative products/isoform Q05469-1;Isoform 1;Testicular Y Y UniProtKB N ver_2full length AAP, DGA, ASD 1100001006 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/alternative products/isoform Q05469-2;Isoform 2 VSP_017116 Y Y ECO:0000311 UniProtKB TBU TBU AAP, DGA, ASD 11/28/2012 118 1100001007 Rose Q8NF37 79888 LPCAT1 Homo sapiens 9606 Comment/alternative products/isoform Q8NF37-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 86 1100001009 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Comment/alternative products/isoform Q7L5N7-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 1/9/2013 84 1100001011 Rose Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Comment/alternative products/isoform Q6P1A2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 82 1100001012 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-1;Isoform 1;L-LTA4 Y Y ECO:0000311 UniProtKB TBU full length AAP, ASD 2/6/2013 161 1100001013 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-2;Isoform 2;S-LTA4 VSP_041108 VSP_041109 Y Y ECO:0000311 UniProtKB TBU TBU AAP, ASD 2/6/2013 161 1100001014 Mike P09960 4048 LTA4H Homo sapiens 9606 Comment/alternative products/isoform P09960-3;Isoform 3 VSP_041107 VSP_041108 VSP_041109 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 2/6/2013 161 1100001015 Rose Q15722 1241 LTB4R Homo sapiens 9606 Comment/alternative products/isoform Q15722-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 123 1100001016 Katie Q9NPC1 56413 LTB4R2 Homo sapiens 9606 Comment/alternative products/isoform Q9NPC1-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 2/6/2013 107 1100001018 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/alternative products/isoform P49137-1;Isoform 1 Has a nuclear localization signal. Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 11/28/2012 134 1100001019 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Comment/alternative products/isoform P49137-2;Isoform 2 VSP_004910 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 11/28/2012 134 1100001020 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP, ASD 11/28/2012 74 1100001021 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-2;Isoform 2 VSP_030967 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 11/28/2012 74 1100001022 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Comment/alternative products/isoform Q96N66-3;Isoform 3 VSP_030968 Y Y ECO:0000311 UniProtKB TBU TBU AAP, ASD 11/28/2012 74 1100001023 Rose Q99735 4258 MGST2 Homo sapiens 9606 Comment/alternative products/isoform Q99735-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 4/3/2013 110 1100001024 Rose O14880 4259 MGST3 Homo sapiens 9606 Comment/alternative products/isoform O14880-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 4/3/2013 110 1100001026 Rose Q8TDS5 165140 OXER1 Homo sapiens 9606 Comment/alternative products/isoform Q8TDS5-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 4/3/2013 92 1100001027 Rose Q96P68 27199 OXGR1 Homo sapiens 9606 Comment/alternative products/isoform Q96P68-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 9/18/2013 100 1100001028 Rose Q99487 5051 PAFAH2 Homo sapiens 9606 Comment/alternative products/isoform Q99487-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1/9/2013 114 1100001029 Rose O15496 8399 PLA2G10 Homo sapiens 9606 Comment/alternative products/isoform O15496-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 125 1100001030 Rose Q9BZM1 81579 PLA2G12A Homo sapiens 9606 Comment/alternative products/isoform Q9BZM1-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 114 1100001031 Rose Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/alternative products/isoform Q9BX93-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 99 1100001032 curatus P53816 11145 PLA2G16 Homo sapiens 9606 Comment/alternative products/isoform P53816-1;Isoform 1 Y Y ECO:0000311 UniProt-derived N ver_2full length (doesn't exist in UniProtKB) AAP 5/29/2013 109 1100001033 Rose P04054 5319 PLA2G1B Homo sapiens 9606 Comment/alternative products/isoform P04054-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 140 1100001034 Rose P14555 5320 PLA2G2A Homo sapiens 9606 Comment/alternative products/isoform P14555-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 1/9/2013 154 1100001035 Rose Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Comment/alternative products/isoform Q9UNK4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 115 1100001036 Rose Q9NZK7 30814 PLA2G2E Homo sapiens 9606 Comment/alternative products/isoform Q9NZK7-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 102 1100001037 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/alternative products/isoform Q9BZM2-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 100 1100001038 Katie Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Comment/alternative products/isoform Q9BZM2-2;Isoform 2 VSP_037524 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 100 1100001039 Rose Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Comment/alternative products/isoform Q9NZ20-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 11/28/2012 110 1100001040 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Comment/alternative products/isoform P47712-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 140 1100001041 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-6;Isoform 5;Beta1 VSP_039387 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB TBU P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1100001042 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-7;Isoform 2;beta2 VSP_039387 VSP_039389 VSP_039390 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB TBU P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1100001043 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-8;Isoform 3;beta3 VSP_039387 VSP_039388 Based on a naturally occurring readthrough transcript which produces a JMJD7-PLA2G4B fusion protein. Y Y ECO:0000311 UniProtKB TBU P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1100001044 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Comment/alternative products/isoform P0C869-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length, P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 1100001046 Rose Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/alternative products/isoform Q9UP65-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 11/28/2012 93 1100001047 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/alternative products/isoform Q86XP0-2;Isoform 2 VSP_019881 VSP_019882 May be due to an intron retention. Ref.2 (AAH34571) sequence is in conflict in position: 713:G->R. Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 82 1100001048 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Comment/alternative products/isoform Q86XP0-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 82 1100001049 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Comment/alternative products/isoform Q3MJ16-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP 11/28/2012 70 1100001051 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Comment/alternative products/isoform Q68DD2-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 11/28/2012 72 1100001054 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Comment/alternative products/isoform P39877-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 11/28/2012 123 1100001055 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-1;Isoform LH-iPLA2 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, DGA, ASD 1/9/2013 128 1100001056 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-2;Isoform SH-iPLA2 VSP_000278 Y Y ECO:0000311 UniProtKB TBU TBU AAP, DGA, ASD 1/9/2013 128 1100001057 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-3;Isoform Ankyrin-iPLA2-1 VSP_000281 VSP_000282 Y Y ECO:0000311 UniProtKB TBU TBU TBU AAP, DGA, ASD 1/9/2013 128 1100001058 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Comment/alternative products/isoform O60733-4;Isoform Ankyrin-iPLA2-2 VSP_000277 VSP_000279 VSP_000280 Y Y ECO:0000311 UniProtKB TBU TBU AAP, DGA, ASD 1/9/2013 128 1100001059 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU full length AAP 11/28/2012 77 1100001061 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-2;Isoform 2 VSP_032226 VSP_032231 VSP_032232 Y Y ECO:0000311 UniProtKB TBU TBU AAP 11/28/2012 77 1100001062 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-3;Isoform 3 VSP_032227 VSP_032228 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 77 1100001063 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Comment/alternative products/isoform Q6P1J6-5;Isoform 5 VSP_032225 Y Y ECO:0000311 UniProtKB TBU AAP 11/28/2012 77 1100001064 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/alternative products/isoform Q96AD5-1;Isoform 1 Y Y UniProtKB full length AAP 6/26/2013 87 1100001065 Rose Q13258 5729 PTGDR Homo sapiens 9606 Comment/alternative products/isoform Q13258-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 116 1100001067 Rose Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Comment/alternative products/isoform Q9Y5Y4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 102 1100001068 Rose P41222 5730 PTGDS Homo sapiens 9606 Comment/alternative products/isoform P41222-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA 2/6/2013 132 1100001069 Rose P34995 5731 PTGER1 Homo sapiens 9606 Comment/alternative products/isoform P34995-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 112 1100001070 Rose P43116 5732 PTGER2 Homo sapiens 9606 Comment/alternative products/isoform P43116-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 112 1100001071 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-2;Isoform EP3C;EP3-II VSP_001935 Known as EP3D in PubMed:8075855. Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 131 1100001072 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-3;Isoform EP3B;EP3-III VSP_001936 Known as EP3E in PubMed:8075855. Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 131 1100001073 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-4;Isoform EP3D;EP3-IV VSP_001937 Known as EP3F in PubMed:8075855. Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 131 1100001074 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-1;Isoform EP3A;EP(3-Ic) Y Y ECO:0000311 UniProtKB TBU full length AAP, ASD 1/9/2013 131 1100001075 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-5;Isoform EP3E VSP_001938 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 131 1100001076 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-6;Isoform EP3F VSP_001939 Y Y ECO:0000311 UniProtKB TBU TBU AAP, ASD 1/9/2013 131 1100001077 Rose P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-7;Isoform EP3G VSP_013271 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 131 1100001078 Rose P35408 5734 PTGER4 Homo sapiens 9606 Comment/alternative products/isoform P35408-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 124 1100001079 Rose O14684 9536 PTGES Homo sapiens 9606 Comment/alternative products/isoform O14684-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA 2/6/2013 100 1100001080 Rose Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Comment/alternative products/isoform Q9H7Z7-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 2/6/2013 110 1100001081 Rose Q15185 10728 PTGES3 Homo sapiens 9606 Comment/alternative products/isoform Q15185-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 2/6/2013 125 1100001082 Rose P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 1/9/2013 120 1100001083 Rose P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-2;Isoform 2;FP(S) VSP_042025 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 1/9/2013 120 1100001084 Rose P43119 5739 PTGIR Homo sapiens 9606 Comment/alternative products/isoform P43119-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1/9/2013 125 1100001085 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Comment/alternative products/isoform Q14914-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 1/9/2013 125 1100001087 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-1;Isoform 1;Long Y Y UniProtKB N ver_2full length AAP, DGA, AAP-M, ASD 2/6/2013 151 1100001088 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-2;Isoform 2;Short VSP_004673 Y Y ECO:0000311 UniProtKB AAP, DGA, AAP-M, ASD 2/6/2013 151 1100001089 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Comment/alternative products/isoform O14975-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP 2/6/2013 106 1100001091 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-1;Isoform 1 Y Y ECO:0000311 UniProtKB TBU TBU full length AAP, ASD 2/6/2013 124 1100001092 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-2;Isoform 2 VSP_045331 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 2/6/2013 124 1100001093 Rose P35610 6646 SOAT1 Homo sapiens 9606 Comment/alternative products/isoform P35610-3;Isoform 3 VSP_045330 Y Y ECO:0000311 UniProtKB TBU AAP, ASD 2/6/2013 124 1100001094 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/alternative products/isoform P21731-3;Isoform 1;Alpha VSP_001925 Ref.2 (AAA58957) sequence differs from that shown due to frameshifts in positions 330 and 386. Y Y ECO:0000311 UniProtKB TBU full length AAP, DGA, ASD 1/9/2013 138 1100001095 Rose P21731 6915 TBXA2R Homo sapiens 9606 Comment/alternative products/isoform P21731-2;Isoform 2;Beta Y Y ECO:0000311 UniProtKB TBU TBU AAP, DGA, ASD 1/9/2013 138 1100001096 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Comment/alternative products/isoform P24557-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA, ASD 2/6/2013 147 1100001097 curatus O95255 368 ABCC6 Homo sapiens 9606 Comment/alternative products/isoform O95255-1;Isoform 1 Y Y UniProtKB full length AAP, DGA, ASD 1100001555 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Comment/alternative products/isoform Q96J66-1;Isoform 1 Y Y UniProtKB full length AAP, DGA, AAP-M 1100001907 curatus O15438 8714 ABCC3 Homo sapiens 9606 Comment/alternative products/isoform O15438-1;Isoform 1;MRP3 Y Y UniProtKB full length AAP, DGA, AAP-M, ASD 1100002040 curatus Q8N8N7 145482 PTGR2 Homo sapiens 9606 Comment/alternative products/isoform Q8N8N7-1;Isoform 1;ZADH1b Y Y UniProtKB full length AAP, ASD 1100002098 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Comment/alternative products/isoform Q92887-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, AAP-M, ASD 1100002099 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Comment/alternative products/isoform Q5T3U5-1;Isoform 1;Mrp7 Y Y UniProtKB full length AAP, ASD 1100002100 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Comment/alternative products/isoform P52895-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 1100002101 curatus Q15067 51 ACOX1 Homo sapiens 9606 Comment/alternative products/isoform Q15067-1;Isoform 1;SCOX-exon 3I Y Y UniProtKB full length AAP, ASD 1100002102 curatus Q9NP80 50640 PNPLA8 Homo sapiens 9606 Comment/alternative products/isoform Q9NP80-1;Isoform 1 Y Y UniProtKB full length AAP 1100002103 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Comment/alternative products/isoform Q04828-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1100002104 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Comment/alternative products/isoform P13584-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 1100002105 curatus Q9UNU6 1582 CYP8B1 Homo sapiens 9606 Comment/alternative products/isoform Q9UNU6-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1100002106 curatus Q9H4B8 64180 DPEP3 Homo sapiens 9606 Comment/alternative products/isoform Q9H4B8-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1100002107 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Comment/alternative products/isoform Q9HCS2-1;Isoform 1 Y Y UniProtKB full length AAP 1100002108 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Comment/alternative products/isoform P14550-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1100002109 curatus Q8NCG7 221955 DAGLB Homo sapiens 9606 Comment/alternative products/isoform Q8NCG7-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 1100002110 curatus Q9Y4D2 747 DAGLA Homo sapiens 9606 Comment/alternative products/isoform Q9Y4D2-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1100002111 curatus Q99685 11343 MGLL Homo sapiens 9606 Comment/alternative products/isoform Q99685-1;Isoform 1 Y Y UniProtKB full length AAP, ASD 1100002112 curatus Q9BX51 92086 GGTLC1 Homo sapiens 9606 Comment/alternative products/isoform Q9BX51-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1100002113 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Comment/alternative products/isoform O94956-1;Isoform 1;FL Y Y UniProtKB full length AAP, ASD 1100002114 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Comment/alternative products/isoform Q8N6M6-1;Isoform 1 Y Y UniProtKB full length AAP 1100002115 curatus Q9H4A4 6051 RNPEP Homo sapiens 9606 Comment/alternative products/isoform Q9H4A4-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1100002116 curatus Q9HAU8 57140 RNPEPL1 Homo sapiens 9606 Comment/alternative products/isoform Q9HAU8-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 1100002117 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Comment/alternative products/isoform Q92959-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, ASD 1100002118 curatus O15438 8714 ABCC3 Homo sapiens 9606 Comment/alternative products/isoform O15438-2;Isoform 2;MRP3A VSP_000042 May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Y Y UniProtKB TBU TBU AAP, DGA, AAP-M, ASD 1100003628 curatus O15438 8714 ABCC3 Homo sapiens 9606 Comment/alternative products/isoform O15438-3;Isoform 3;MRP3B VSP_000040 VSP_000041 May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Y Y UniProtKB TBU AAP, DGA, AAP-M, ASD 1100003629 curatus O95255 368 ABCC6 Homo sapiens 9606 Comment/alternative products/isoform O95255-2;Isoform 2;URG7 VSP_047315 VSP_047316 Gene prediction based on EST data. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Y Y UniProtKB TBU AAP, DGA, ASD 1100003632 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Comment/alternative products/isoform Q5T3U5-2;Isoform 2;Mrp7A VSP_021078 VSP_021079 VSP_021080 Y Y UniProtKB AAP, ASD 1100003633 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Comment/alternative products/isoform Q96J66-2;Isoform 2;Isoform A VSP_017351 Y Y UniProtKB AAP, DGA, AAP-M 1100003634 curatus Q15067 51 ACOX1 Homo sapiens 9606 Comment/alternative products/isoform Q15067-2;Isoform 2;SCOX-exon 3II VSP_000146 Y Y UniProtKB AAP, ASD 1100003636 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Comment/alternative products/isoform P13584-2;Isoform 2 VSP_038419 Y Y UniProtKB AAP, ASD 1100003640 curatus Q99685 11343 MGLL Homo sapiens 9606 Comment/alternative products/isoform Q99685-2;Isoform 2 VSP_045138 VSP_045139 Y Y UniProtKB AAP, ASD 1100003645 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Comment/alternative products/isoform O94956-3;Isoform 3;Short VSP_054109 Functional transporter. Predominant isoform in liver, expression at promoter is regulated by HNF4alpha. Y Y UniProtKB TBU AAP, ASD 1100003647 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Comment/alternative products/isoform Q8N6M6-2;Isoform 2 VSP_013161 Y Y UniProtKB AAP 1100003649 curatus P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-6;Isoform 6;1b2 VSP_054863 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007428 curatus P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-3;Isoform 3 VSP_053936 VSP_004673 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007429 curatus P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-5;Isoform 5;1b3 VSP_054862 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007430 curatus O95864 9415 FADS2 Homo sapiens 9606 Comment/alternative products/isoform O95864-4;Isoform 4 VSP_054809 Y Y UniProtKB N ver_2 AAP, DGA, ASD 1100007436 curatus P24557 6916 TBXAS1 Homo sapiens 9606 Comment/alternative products/isoform P24557-3;Isoform 3 VSP_054121 Y Y UniProtKB N ver_2 AAP, DGA, ASD 1100007439 curatus P24557 6916 TBXAS1 Homo sapiens 9606 Comment/alternative products/isoform P24557-4;Isoform 4 VSP_054122 VSP_054123 Y Y UniProtKB N ver_2 AAP, DGA, ASD 1100007441 curatus P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-5;Isoform 5;alpha-10 VSP_053536 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007442 curatus P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-4;Isoform 4;delta-10-13 VSP_053535 VSP_053537 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007443 curatus P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-2;Isoform 2;Delta-13 VSP_046998 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007444 curatus P09917 240 ALOX5 Homo sapiens 9606 Comment/alternative products/isoform P09917-3;Isoform 3;delta-p10 VSP_053534 Y Y UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 1100007445 curatus Q08477 4051 CYP4F3 Homo sapiens 9606 Comment/alternative products/isoform Q08477-2;Isoform CYP4F3B VSP_047193 Y Y UniProtKB N ver_2 AAP 1100007459 curatus P07203 2876 GPX1 Homo sapiens 9606 Comment/alternative products/isoform P07203-2;Isoform 2 VSP_047369 VSP_047370 Y Y ECO:0000311 UniProtKB N ver_2 Gene prediction based on EST data. AAP, DGA, ASD 1100007466 curatus P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-10;Isoform EP3-V VSP_053776 Y Y UniProtKB N ver_2 AAP, ASD 1100007471 curatus P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-11;Isoform EP3E2 VSP_053777 Y Y UniProtKB N ver_2 AAP, ASD 1100007472 curatus P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-8;Isoform EP3-III VSP_053774 Y Y UniProtKB N ver_2 AAP, ASD 1100007473 curatus P43115 5733 PTGER3 Homo sapiens 9606 Comment/alternative products/isoform P43115-9;Isoform EP3-IV VSP_053775 Y Y UniProtKB N ver_2 AAP, ASD 1100007474 curatus P24752 38 ACAT1 Homo sapiens 9606 Comment/alternative products/isoform P24752-2;Isoform 2 VSP_056844 VSP_056845 Y Y UniProtKB N ver_2 AAP, DGA, ASD 1100007477 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-2;Isoform 2;VAR-1 VSP_042025 Y Y UniProtKB N ver_2 AAP, ASD 1100007488 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-7;Isoform 7;VAR-6 VSP_053590 VSP_053594 Y Y UniProtKB N ver_2 AAP, ASD 1100007489 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-5;Isoform 5;VAR-4 VSP_053593 VSP_053597 Y Y UniProtKB N ver_2 AAP, ASD 1100007490 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-4;Isoform 4;VAR-3 VSP_053588 VSP_053596 Y Y UniProtKB N ver_2 AAP, ASD 1100007491 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-3;Isoform 3;VAR-2 VSP_053589 VSP_053595 Y Y UniProtKB N ver_2 AAP, ASD 1100007492 curatus P43088 5737 PTGFR Homo sapiens 9606 Comment/alternative products/isoform P43088-6;Isoform 6;VAR-5 VSP_053591 VSP_053592 Y Y UniProtKB N ver_2 AAP, ASD 1100007493 curatus O15439 10257 ABCC4 Homo sapiens 9606 Comment/alternative products/isoform O15439-4;Isoform 4 VSP_057413 VSP_043283 VSP_043284 Y Y UniProtKB N ver_2 AAP, AAP-M, ASD 1100007494 curatus P19440 2678 GGT1 Homo sapiens 9606 Comment/alternative products/isoform P19440-3;Isoform 3 VSP_008132 Y Y UniProtKB N ver_2 Produced by alternative promoter usage. AAP, DGA, ASD 1100007495 curatus Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/alternative products/isoform Q9UP65-3;Isoform 3 VSP_045849 Y Y UniProtKB N ver_2 AAP 1100007496 curatus Q9UP65 8605 PLA2G4C Homo sapiens 9606 Comment/alternative products/isoform Q9UP65-2;Isoform 2 VSP_045850 Y Y UniProtKB N ver_2 AAP 1100007497 curatus Q9BX93 84647 PLA2G12B Homo sapiens 9606 Comment/alternative products/isoform Q9BX93-2;Isoform 2 VSP_054398 Y Y UniProtKB N ver_2 AAP 1100007498 curatus O95255 368 ABCC6 Homo sapiens 9606 Comment/alternative products/isoform O95255-3;Isoform 3;Delta19Delta24 VSP_057077 VSP_057078 Y Y UniProtKB N ver_2 AAP, DGA, ASD 1100007501 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site Q580A; No effect. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005940 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site T581A; No effect. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005941 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S585A; No effect. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005942 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site N597A; Increases resistance to vincristine and decreases resistance to VP-16. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005943 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S604A; Increases estradiol glucuronide transport. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005944 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S605A; Decreases resistance to vincristine, VP-16 and doxorubicin. Y Y ECO:0000269 PubMed:15260484 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005945 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792A; Only partially affects protein maturation; impairs leukotriene C4 transport. Y Y ECO:0000269 PubMed:11469806 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005946 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D792L; Impairs protein maturation and leukotriene C4 transport. Y Y ECO:0000269 PubMed:11469806 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005947 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D793L; No effect on protein maturation and leukotriene C4 transport. Y Y ECO:0000269 PubMed:11469806 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005948 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1046D; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000269 PubMed:15208328 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005949 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site D1084R; Impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000269 PubMed:15208328 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005950 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089{ALNQ}; Decreases resistance to anthracyclines. Y Y ECO:0000269 PubMed:11278596 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005951 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089D; No effect. Y Y ECO:0000269 PubMed:11278596 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005952 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089K; Abolishes resistance to anthracyclines. Y Y ECO:0000269 PubMed:11278596 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005953 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1131E; Slightly impairs leukotriene C4 and estradiol glucuronide transport. Y Y ECO:0000269 PubMed:15208328 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005954 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1138{EK}; Strongly reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000269 PubMed:16230346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005955 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141E; Reduced transport of leukotriene C4 and of glutathione. Y Y ECO:0000269 PubMed:16230346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005956 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141R; Reduced transport of glutathione. Y Y ECO:0000269 PubMed:16230346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005957 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site R1142{EK}; Reduced transport of leukotriene C4, estradiol glucuronide and of glutathione. Y Y ECO:0000269 PubMed:16230346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005958 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246{AFY}; Impairs estradiol glucuronide transport. Y Y ECO:0000269 PubMed:11278867 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005959 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246C; Impairs estradiol glucuronide transport; loss of resistance to alkaloid vincristine, cationic anthracyclines, epipodophyllotoxin VP-16, but not potassium antimony tartrate; partial loss of resistance to sodium arsenite. Y Y ECO:0000269 PubMed:11278867 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005960 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1333L; Impairs leukotriene C4 transport. Y Y ECO:0000269 PubMed:11469806 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005961 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site DE1454-1455LL; Impairs leukotriene C4 transport. Y Y ECO:0000269 PubMed:11469806 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005962 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C43S; In dbSNP:rs41395947. VAR_013317 rs41395947 Y Y ECO:0000269 PubMed:11266082 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005964 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant T73I; In dbSNP:rs41494447. VAR_013318 rs41494447 Y Y ECO:0000269 PubMed:11266082 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005965 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant M117T; VAR_013319 Y Y ECO:0000269 PubMed:11139250 PubMed:1360704 PubMed:9344662 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005966 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R433S; In dbSNP:rs60782127. VAR_013320 rs60782127 Y Y ECO:0000269 PubMed:11721885 PubMed:18987736 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005967 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R633Q; In dbSNP:rs112282109. VAR_011488 rs112282109 Y Y ECO:0000269 PubMed:10835642 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005968 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant G671V; No effect on leukotriene C4 and estradiol glucuronide transport; dbSNP:rs45511401. VAR_011489 rs45511401 Y Y ECO:0000269 PubMed:10811882 PubMed:10835642 PubMed:11721885 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005969 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R723Q; In dbSNP:rs4148356. VAR_013321 rs4148356 Y Y ECO:0000269 PubMed:11266082 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005970 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant A861T; In dbSNP:rs45517537. VAR_055384 rs45517537 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005971 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C1047S; In dbSNP:rs13337489. VAR_055385 rs13337489 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005972 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R1058Q; In dbSNP:rs41410450. VAR_013322 rs41410450 Y Y ECO:0000269 PubMed:11266082 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005973 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant V1146I; In dbSNP:rs28706727. VAR_055386 rs28706727 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005974 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant S1512L; VAR_013323 Y Y ECO:0000269 PubMed:11139250 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005975 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-2;Isoform 2;Delexon-17;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005978 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-3;Isoform 3;Delexon-18;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005979 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-4;Isoform 4;Delexon-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005980 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-5;Isoform 5;Delexon-17-18;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005981 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-5;Isoform 5;Delexon-17-18;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005982 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-6;Isoform 6;Delexon-17-30;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005983 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-6;Isoform 6;Delexon-17-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005984 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-7;Isoform 7;Delexon-18-30;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005985 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-7;Isoform 7;Delexon-18-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005986 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 706-764:Missing;In isoform 2, isoform 5, isoform 6 and isoform 8. VSP_000037 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005987 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 765-820:Missing;In isoform 3, isoform 5, isoform 7 and isoform 8. VSP_000038 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005988 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/splice variant P33527-8;Isoform 8;Delexon-17-18-30;Position 1431-1495:Missing;In isoform 4, isoform 6, isoform 7 and isoform 8. VSP_000039 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 5/1/2013 139 3300005989 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant L18I; In dbSNP:rs11568681. VAR_046445 rs11568681 Y Y ECO:0000269 PubMed:12105214 PubMed:9661885 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300005990 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P78A; In dbSNP:rs11568689. VAR_029121 rs11568689 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005991 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant C171G; In dbSNP:rs4148460. VAR_046446 rs4148460 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005992 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M184T; In dbSNP:rs45454092. VAR_020241 rs45454092 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005993 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G187W; Transport properties comparable to wild-type; dbSNP:rs11568658. VAR_020242 rs11568658 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300005994 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K293E; In dbSNP:rs11568684. VAR_046447 rs11568684 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005995 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K304N; Transport properties comparable to wild-type; dbSNP:rs2274407. VAR_022072 rs2274407 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300005996 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T356M; In dbSNP:rs11568701. VAR_046448 rs11568701 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005997 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P403L; In dbSNP:rs11568705. VAR_029122 rs11568705 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300005998 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant G487E; Transport properties comparable to wild-type; dbSNP:rs11568668. VAR_029123 rs11568668 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300005999 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant K498E; In dbSNP:rs11568669. VAR_020243 rs11568669 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006000 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant Y556C; 40% reduced expression level compared to wild-type; higher transport of 9-(2-phosphonyl-methoxyethyl) adenine than wild-type. VAR_045684 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006001 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I625M; In dbSNP:rs11568699. VAR_029124 rs11568699 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006002 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant P667L; In dbSNP:rs11568697. VAR_029125 rs11568697 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006003 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant M744V; In dbSNP:rs9282570. VAR_020244 rs9282570 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006004 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant E757K; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs3765534. VAR_022073 rs3765534 Y Y ECO:0000269 PubMed:18300232 PubMed:20547088 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, AAP-M, ASD 5/1/2013 126 3300006005 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V776I; 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type. VAR_045685 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006006 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant R820I; Transport properties comparable to wild-type; dbSNP:rs11568659. VAR_045686 rs11568659 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006007 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V854F; Transport properties comparable to wild-type; dbSNP:rs11568694. VAR_045687 rs11568694 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006008 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V860M; In dbSNP:rs45477596. VAR_020245 rs45477596 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006009 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant I866V; Transport properties comparable to wild-type; dbSNP:rs139970608. VAR_045688 rs139970608 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006010 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant V900L; In dbSNP:rs45504892. VAR_020246 rs45504892 Y Y UniProtKB AAP, AAP-M, ASD 5/1/2013 126 3300006011 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/sequence variant T1142M; 10% reduced expression level compared to wild-type; transport properties comparable to wild-type; dbSNP:rs11568644. VAR_029126 rs11568644 Y Y ECO:0000269 PubMed:18300232 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006012 Rose O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-2;Isoform 2;Position 679-725:Missing;In isoform 2. VSP_035426 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 5/1/2013 126 3300006013 Katie Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R477Q; In dbSNP:rs4494951. VAR_033459 rs4494951 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 109 3300006016 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A5P; In dbSNP:rs3741056. VAR_007496 rs3741056 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 11/28/2012 141 3300006017 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A301P; In 3KTD; 5% normal activity. VAR_007503 Y Y ECO:0000269 PubMed:7728148 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006020 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A333P; In 3KTD; no activity. VAR_007505 Y Y ECO:0000269 PubMed:9744475 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006022 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A380T; In 3KTD; 7% normal activity. VAR_007507 Y Y ECO:0000269 PubMed:1715688 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006024 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G152A; In 3KTD. VAR_007499 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006026 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G183R; In 3KTD; no activity. VAR_007501 Y Y ECO:0000269 PubMed:1346617 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006028 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G379V; In 3KTD. VAR_007506 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006030 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant I312T; In 3KTD; 10% activity. VAR_007504 Y Y ECO:0000269 PubMed:9744475 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006032 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N158D; In 3KTD; no activity. VAR_007500 Y Y ECO:0000269 PubMed:7728148 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006034 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N93S; In 3KTD; 10% activity. VAR_007498 Y Y ECO:0000269 PubMed:9744475 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006036 Rose P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant T297M; In 3KTD; 10% normal activity. VAR_007502 Y Y ECO:0000269 PubMed:7728148 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 141 3300006038 Faith Q86TX2 641371 ACOT1 Homo sapiens 9606 Feature/sequence variant R266H; In dbSNP:rs1049568. VAR_059830 rs1049568 Y Y UniProtKB AAP 5/1/2013 87 3300006040 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant R11W; In dbSNP:rs34630746. VAR_048190 rs34630746 Y Y UniProtKB AAP 5/1/2013 113 3300006061 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant P165L; In dbSNP:rs2304306. VAR_022119 rs2304306 Y Y UniProtKB AAP 5/1/2013 113 3300006062 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant G202D; In dbSNP:rs1702003. VAR_022120 rs1702003 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/1/2013 113 3300006063 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant M212I; In dbSNP:rs2304305. VAR_022121 rs2304305 Y Y UniProtKB AAP 5/1/2013 113 3300006064 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/sequence variant R536H; In dbSNP:rs12403630. VAR_048191 rs12403630 Y Y UniProtKB AAP 5/1/2013 113 3300006065 Faith Q8WXI4 26027 ACOT11 Homo sapiens 9606 Feature/splice variant Q8WXI4-2;Isoform 2;BFIT2;Position 544-607:CCWVRVSLTELVSASGFYSWGLESRSKGRRSDGWNGKLAGGHLSTLKAIPVAKINSRFGYLQDT->VSYYNQATPGVLNYVTTNVAGLSSEFYTTFKACEQFLLDNRNDLAPSLQTL;In isoform 2. VSP_000160 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/1/2013 113 3300006066 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site N50A; Reduced activity. Y Y ECO:0000269 PubMed:19170545 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/29/2013 101 3300006067 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site H56A; Decreases affinity for substrate. Y Y ECO:0000269 PubMed:19170545 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/29/2013 101 3300006068 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65A; Loss of activity. Y Y ECO:0000269 PubMed:16934754 PubMed:19170545 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/29/2013 101 3300006069 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65{EN}; Reduced activity. Y Y ECO:0000269 PubMed:16934754 PubMed:19170545 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/29/2013 101 3300006070 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site S83A; Reduced activity. Y Y ECO:0000269 PubMed:19170545 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/29/2013 101 3300006071 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/sequence variant R16S; In dbSNP:rs11545741. VAR_057271 rs11545741 Y Y UniProtKB AAP 5/29/2013 127 3300006073 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/sequence variant H475R; In dbSNP:rs7494. VAR_016136 rs7494 Y Y ECO:0000269 PubMed:10944470 PubMed:14702039 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/29/2013 127 3300006074 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/splice variant P49753-2;Isoform 2;Position 1-20:Missing;In isoform 2. VSP_012225 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/29/2013 127 3300006075 Faith P49753 10965 ACOT2 Homo sapiens 9606 Feature/splice variant P49753-2;Isoform 2;Position 53-214:Missing;In isoform 2. VSP_012226 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/29/2013 127 3300006076 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Feature/sequence variant R57C; In dbSNP:rs3742819. VAR_052300 rs3742819 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/1/2013 92 3300006077 Faith Q8N9L9 122970 ACOT4 Homo sapiens 9606 Feature/sequence variant A187D; In dbSNP:rs35724886. VAR_052301 rs35724886 Y Y UniProtKB AAP 5/1/2013 92 3300006078 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006081 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 287-288:GC->AP;In isoform 2. VSP_000155 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006082 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-2;Isoform 2;hBACHa-X;Position 289-380:Missing;In isoform 2. VSP_000156 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006083 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-3;Isoform 3;hBACHa-Xi;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006084 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-3;Isoform 3;hBACHa-Xi;Position 287-380:GCVITISGRMTFTSNKSMEIEVLVDADPVVDSSQKRYRAASAFFTYVSLSQEGRSLPVPQLVPETEDEKKRFEEGKGRYLQMKAKRQGHAEPQP->AHVMPAGADHTAPSSSPSTGTKCSLLRHHHLGTHDLHEQ;In isoform 3. VSP_000154 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006085 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-4;Isoform 4;hBACHa;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MSGPDVETPSAIQIC;In isoform 2, isoform 3 and isoform 4. VSP_000152 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID Major isoform. AAP, ASD 6/26/2013 124 3300006086 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-5;Isoform 5;hBACHc;Position 1-58:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITGR->MLLLRRSLSLNVLRKEVDRACFGEKAKQ;In isoform 5. VSP_000151 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006087 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-6;Isoform 6;hBACHd;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MAFQLS;In isoform 6. VSP_000153 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006088 Faith O00154 11332 ACOT7 Homo sapiens 9606 Feature/splice variant O00154-7;Isoform 7;Position 1-57:MKLLARALRLCEFGRQASSRRLVAGQGCVGPRRGCCAPVQVVGPRADLPPCGACITG->MARPGLIHSAPGLPDTCALLQPPAASAAAAPSMSGPDVETPSAIQIC;In isoform 7. VSP_047094 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 6/26/2013 124 3300006089 Mike O95573 2181 ACSL3 Homo sapiens 9606 Feature/sequence variant F551S; In dbSNP:rs1046032. VAR_026716 rs1046032 Y Y ECO:0000269 PubMed:11707336 PubMed:9177793 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 1/9/2013 115 3300006091 Mike O60488 2182 ACSL4 Homo sapiens 9606 Feature/sequence variant R133C; In a colorectal cancer sample; somatic mutation. VAR_036376 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 11/28/2012 131 3300006093 Mike O60488 2182 ACSL4 Homo sapiens 9606 Feature/sequence variant R570S; In MRX63. VAR_013180 Y Y ECO:0000269 PubMed:11889465 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 11/28/2012 131 3300006095 Faith O60488 2182 ACSL4 Homo sapiens 9606 Feature/splice variant O60488-2;Isoform Short;Position 1-41:Missing;In isoform Short. VSP_000238 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 11/28/2012 131 3300006097 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant T486A; In dbSNP:rs12254915. VAR_048240 rs12254915 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006098 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant M182V; In dbSNP:rs3736946. VAR_022117 rs3736946 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006099 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant G466D; In a colorectal cancer sample; somatic mutation. VAR_036378 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006100 Katie Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/sequence variant K388R; In a colorectal cancer sample; somatic mutation. VAR_036377 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006102 Faith Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/splice variant Q9ULC5-3;Isoform 2;ACSL5a;Position 1:M->MDALKPPCLWRNHERGKKDRDSCGRKNSEPGSPHSLEALRDAAPSQGLNFLLLFTKM;In isoform 2. VSP_037947 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006104 Faith Q9ULC5 51703 ACSL5 Homo sapiens 9606 Feature/splice variant Q9ULC5-4;Isoform 3;ACSL5delta20;Position 614-637:Missing;In isoform 3. VSP_038233 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M 11/28/2012 121 3300006105 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-1;Isoform 1;v2;Position 1:M->MLTFFLVSGGSLWLFVEFVLSLLEKM;In isoform 1 and isoform 8. VSP_037819 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 6/26/2013 124 3300006106 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-5;Isoform 5;v4;Position 306-312:Missing;In isoform 5. VSP_037823 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 6/26/2013 124 3300006110 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-6;Isoform 6;v5;Position 192:T->TGLSCQEGASATASTQ;In isoform 6. VSP_037821 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 6/26/2013 124 3300006111 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-7;Isoform 7;v3;Position 31-65:Missing;In isoform 7. VSP_037820 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 6/26/2013 124 3300006112 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Feature/splice variant Q9UKU0-7;Isoform 7;v3;Position 306-345:Missing;In isoform 7. VSP_037822 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, AAP-M, ASD 6/26/2013 124 3300006113 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Feature/sequence variant Y77C; In dbSNP:rs17077958. VAR_022696 rs17077958 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 97 3300006126 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site D44N; Reduced enzymatic activity. Y Y ECO:0000269 PubMed:8245005 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006127 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site H111N; Reduced enzymatic activity. Y Y ECO:0000269 PubMed:8245005 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006128 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site K78M; Reduced enzymatic activity. Y Y ECO:0000269 PubMed:8245005 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006129 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site Y49F; Complete loss of enzymatic activity. Y Y ECO:0000269 PubMed:8245005 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006130 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant K90E; In dbSNP:rs2229542. VAR_048213 rs2229542 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006131 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant I15F; In dbSNP:rs5054. VAR_014743 rs5054 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006132 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant H42L; In dbSNP:rs5056. VAR_014744 rs5056 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006133 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant L73V; In dbSNP:rs5057. VAR_014745 rs5057 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006134 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant G204S; In dbSNP:rs5061. VAR_014746 rs5061 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006135 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/sequence variant T288I; In dbSNP:rs5062. VAR_014747 rs5062 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 157 3300006136 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/mutagenesis site K75E; No effect on 17beta-HSD activity. Y Y ECO:0000269 PubMed:9927279 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006137 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant M175I; No effect on 17beta-HSD activity; dbSNP:rs1131132. VAR_013289 rs1131132 Y Y ECO:0000269 PubMed:7650035 PubMed:8274401 PubMed:9927279 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006138 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant H5Q; In dbSNP:rs12529. VAR_013288 rs12529 Y Y ECO:0000269 PubMed:10557352 PubMed:10622721 PubMed:7626489 PubMed:7650035 PubMed:7788527 PubMed:8274401 PubMed:9415401 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006139 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant P180S; In dbSNP:rs34186955. VAR_032769 rs34186955 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006140 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant R170C; In dbSNP:rs35575889. VAR_032768 rs35575889 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006141 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant R66Q; In dbSNP:rs35961894. VAR_032767 rs35961894 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006142 Rose P42330 8644 AKR1C3 Homo sapiens 9606 Feature/sequence variant E77G; In dbSNP:rs41306308. VAR_061001 rs41306308 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 142 3300006143 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant Q261R; In dbSNP:rs1126667. VAR_018743 rs1126667 Y Y ECO:0000269 PubMed:15308583 PubMed:15489334 PubMed:17151091 PubMed:17460548 PubMed:2217179 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, AAP-M 1/9/2013 143 3300006144 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant R430H; In dbSNP:rs11571342. VAR_018745 rs11571342 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M 1/9/2013 143 3300006145 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant N322S; In dbSNP:rs434473. VAR_018744 rs434473 Y Y ECO:0000269 PubMed:2244907 PubMed:2377602 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M 1/9/2013 143 3300006146 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant E259K; In dbSNP:rs4987104. VAR_030471 rs4987104 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M 1/9/2013 143 3300006147 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant A298T; VAR_004279 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M 1/9/2013 143 3300006148 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant G94S; In dbSNP:rs8077661. VAR_050000 rs8077661 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 116 3300006149 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/mutagenesis site M418V; Catalyzes 15- and 12-lipoxygenation. Y Y ECO:0000269 PubMed:1944593 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006154 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant N103K; In dbSNP:rs11568099. VAR_018747 rs11568099 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006155 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant R205Q; In dbSNP:rs11568101. VAR_018748 rs11568101 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006156 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant D90H; In dbSNP:rs11568142. VAR_018746 rs11568142 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006157 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant A461P; In dbSNP:rs17852628. VAR_035038 rs17852628 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006158 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant V239M; In dbSNP:rs3892408. VAR_035037 rs3892408 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006160 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant G102V; In dbSNP:rs41439950. VAR_035036 rs41439950 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 139 3300006161 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant Q656R; In dbSNP:rs4792147. VAR_024524 rs4792147 Y Y ECO:0000269 PubMed:11350124 PubMed:11839751 PubMed:15489334 PubMed:9177185 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006162 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant I676V; In dbSNP:rs7225107. VAR_024525 rs7225107 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006163 Mike O15296 247 ALOX15B Homo sapiens 9606 Feature/sequence variant R486H; In dbSNP:rs9895916. VAR_061334 rs9895916 Y Y ECO:0000269 PubMed:11839751 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006164 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-2;Isoform B;15-LOX2sv-b;Position 401-429:Missing;In isoform B and isoform D. VSP_003142 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006165 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-2;Isoform B;15-LOX2sv-b;Position 483-527:Missing;In isoform B. VSP_003143 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006166 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-3;Isoform C;15-LOX2sv-c;Position 561-617:FDSCAWMPNLPPSMQLPPPTSKGLATCEGFIATLPPVNATCDVILALWLLSKEPGDQ->VRKGQRPRWQAGGDPAPQPHSALSAFSLTPVLGCPTCHPACSCHHPPPKAWQHARAS;In isoform C. VSP_003144 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006167 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-3;Isoform C;15-LOX2sv-c;Position 618-676:Missing;In isoform C. VSP_003145 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 125 3300006168 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site D359N; No loss of activity. Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006170 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site E377Q; No activity. Y Y ECO:0000269 PubMed:1540191 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006171 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H363{SN}; Still some substantial activity. Y Y ECO:0000269 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006172 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H368{SNA}; No activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006173 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H373{SN}; No activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006174 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391{SN}; Still some substantial activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006175 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391A; No activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006176 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400{SN}; Still some substantial activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006177 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400A; No activity. Y Y ECO:0000269 PubMed:1540191 PubMed:1939225 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006178 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H433{NA}; Almost no loss of activity. Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006179 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H551{NA}; No activity. Y Y ECO:0000269 PubMed:1540191 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006180 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site S272A; Loss of phosphorylation site. Permits export from the nucleus. Y Y ECO:0000269 PubMed:18978352 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006181 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site S524A; Prevents phosphorylation by PKA. Y Y ECO:0000269 PubMed:15280375 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006182 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/sequence variant E254K; In dbSNP:rs2228065. VAR_028018 rs2228065 Y Y ECO:0000269 PubMed:15308583 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 11/28/2012 143 3300006183 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site A27V; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006184 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site D62A; Decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006185 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site F123A; Decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006186 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site I113A; Increased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006187 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site K116A; Strongly increased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006188 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site T66A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006189 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site V20A; Increased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006190 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site V30A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006191 Rose P20292 241 ALOX5AP Homo sapiens 9606 Feature/mutagenesis site Y112A; Strongly decreased affinity for the inhibitor MK-591. Y Y ECO:0000269 PubMed:17600184 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 113 3300006192 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C235A; Abolishes activity. Y Y ECO:0000269 PubMed:12239217 PubMed:12810727 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006198 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C235S; Lowers N-acyltransferase activity; enhanced thioesterase activity presumably dependent on the formation of a bile acid-enzyme covalent intermediate via a thioester bond. Y Y ECO:0000269 PubMed:12239217 PubMed:12810727 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006199 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site D328A; Abolishes activity. Y Y ECO:0000269 PubMed:12239217 PubMed:12810727 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006200 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site H362A; Abolishes activity. Y Y ECO:0000269 PubMed:12239217 PubMed:12810727 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006201 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C372A; Retains activity. Y Y UniProtKB AAP, ASD 5/1/2013 102 3300006202 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site Q417K; Translocation to peroxisomes. Y Y ECO:0000269 PubMed:12810727 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006203 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/sequence variant R20Q; In dbSNP:rs1572983. VAR_052303 rs1572983 Y Y ECO:0000269 PubMed:15489334 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006204 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/sequence variant M76V; In FHCA; dbSNP:rs28937579. VAR_023737 rs28937579 Y Y ECO:0000269 PubMed:12704386 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 5/1/2013 102 3300006205 Mike P16152 873 CBR1 Homo sapiens 9606 Feature/sequence variant V88I; Reduced affinity for NADPH and reduced activity towards daunorubicin and prostaglandin E2; dbSNP:rs1143663. VAR_059053 rs1143663 Y Y ECO:0000269 PubMed:17344335 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 147 3300006206 Mike P16152 873 CBR1 Homo sapiens 9606 Feature/sequence variant P131S; In dbSNP:rs41557318. VAR_031706 rs41557318 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 147 3300006207 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant V244M; Increased catalytic activity; dbSNP:rs1056892. VAR_033873 rs1056892 Y Y ECO:0000269 PubMed:15537833 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006208 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant P131S; In dbSNP:rs16993929. VAR_033871 rs16993929 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006209 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant V93I; In dbSNP:rs2835285. VAR_033870 rs2835285 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006210 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant M235L; In dbSNP:rs4987121. VAR_033872 rs4987121 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006211 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant C4Y; In dbSNP:rs8133052. VAR_033868 rs8133052 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006212 Mike O75828 874 CBR3 Homo sapiens 9606 Feature/sequence variant L84V; In dbSNP:rs9282628. VAR_033869 rs9282628 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 115 3300006213 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I462V; In allele CYP1A1*2B and allele CYP1A1*2C; dbSNP:rs1048943. VAR_001243 rs1048943 Y Y ECO:0000269 PubMed:15643613 PubMed:1722803 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006214 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I78T; In dbSNP:rs17861094. VAR_023195 rs17861094 Y Y ECO:0000269 PubMed:15469410 PubMed:15643613 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006215 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant T461N; In allele CYP1A1*4; dbSNP:rs1799814. VAR_008342 rs1799814 Y Y ECO:0000269 PubMed:15469410 PubMed:15643613 PubMed:8895751 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006216 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R93W; In dbSNP:rs2229150. VAR_024706 rs2229150 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006217 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant T173R; In dbSNP:rs28399427. VAR_024707 rs28399427 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006218 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant V482M; In dbSNP:rs28399429. VAR_024708 rs28399429 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006219 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant P492R; In allele CYP1A1*11; dbSNP:rs28399430. VAR_016942 rs28399430 Y Y ECO:0000269 PubMed:15469410 PubMed:15618738 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006220 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R279W; In dbSNP:rs34260157. VAR_009280 rs34260157 Y Y ECO:0000269 PubMed:10739168 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006221 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant M66V; In dbSNP:rs35035798. VAR_033817 rs35035798 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006222 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant F470V; In dbSNP:rs36121583. VAR_033818 rs36121583 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006223 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R464S; In allele CYP1A1*5; dbSNP:rs41279188. VAR_016940 rs41279188 Y Y ECO:0000269 PubMed:11295847 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006224 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant G45D; In dbSNP:rs4646422. VAR_023194 rs4646422 Y Y ECO:0000269 PubMed:15469410 PubMed:15643613 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006225 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I286T; In dbSNP:rs4987133. VAR_020122 rs4987133 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006226 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R477W; In allele CYP1A1*10; dbSNP:rs56240201. VAR_016941 rs56240201 Y Y ECO:0000269 PubMed:15618738 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006227 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant M331I; In allele CYP1A1*6; dbSNP:rs56313657. VAR_016937 rs56313657 Y Y ECO:0000269 PubMed:11295847 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006228 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant I448N; In allele CYP1A1*8. VAR_016938 Y Y ECO:0000269 PubMed:15618738 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006229 Katie P04798 1543 CYP1A1 Homo sapiens 9606 Feature/sequence variant R464C; In allele CYP1A1*9. VAR_016939 Y Y ECO:0000269 PubMed:15618738 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006230 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S18C; In dbSNP:rs17861152. VAR_023196 rs17861152 Y Y ECO:0000269 PubMed:15469410 PubMed:15643613 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006233 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S298R; In dbSNP:rs17861157. VAR_024709 rs17861157 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006234 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant I314V; In dbSNP:rs28399418. VAR_024710 rs28399418 Y Y ECO:0000269 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006235 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R431W; In allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure; dbSNP:rs28399424. VAR_020796 rs28399424 Y Y ECO:0000269 PubMed:11295848 PubMed:14725854 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006236 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant D104N; In dbSNP:rs34067076. VAR_025184 rs34067076 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006237 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R457W; In dbSNP:rs34151816. VAR_055563 rs34151816 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006238 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant G299S; In allele CYP1A2*13; dbSNP:rs35796837. VAR_020852 rs35796837 Y Y ECO:0000269 PubMed:14563787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006239 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant L111F; In dbSNP:rs45442197. VAR_025185 rs45442197 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006240 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R281W; In dbSNP:rs45468096. VAR_025187 rs45468096 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006241 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant T438I; In allele CYP1A2*14; dbSNP:rs45486893. VAR_020853 rs45486893 Y Y ECO:0000269 PubMed:14563787 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006242 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F205V; In dbSNP:rs45540640. VAR_025186 rs45540640 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006243 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant G73R; In dbSNP:rs45565238. VAR_025183 rs45565238 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006244 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant C406Y; In allele CYP1A2*5; increases N-hydroxylation activity of heterocyclic amines; reduces catalytic efficiency of phenacetin O-deethylation; dbSNP:rs55889066. VAR_020795 rs55889066 Y Y ECO:0000269 PubMed:11295848 PubMed:14725854 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006245 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F21L; In allele CYP1A2*2; dbSNP:rs56160784. VAR_008349 rs56160784 Y Y ECO:0000269 PubMed:9884316 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006246 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant D348N; In allele CYP1A2*3; increases N-hydroxylation activity of heterocyclic amines; reduces phenacetin O-deethylation activity; dbSNP:rs56276455. VAR_020793 rs56276455 Y Y ECO:0000269 PubMed:11295848 PubMed:14725854 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006247 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant E168Q; In allele CYP1A2*10. VAR_020849 Y Y ECO:0000269 PubMed:14563787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006248 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant F186L; In allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value. VAR_020850 Y Y ECO:0000269 PubMed:14563787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006249 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant I386F; In allele CYP1A2*4; increases catalytic efficiency of N-hydroxylation towards some heterocyclic amines and reduces towards others; reduces catalytic efficiency of phenacetin O-deethylation due to a high decrease in the affinity for phenacetin. VAR_020794 Y Y ECO:0000269 PubMed:11295848 PubMed:14725854 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006250 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant P42R; In allele CYP1A2*15. VAR_025182 Y Y ECO:0000269 PubMed:15770072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006251 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R377Q; In allele CYP1A2*16. VAR_025188 Y Y ECO:0000269 PubMed:15770072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006252 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant R456H; In allele CYP1A2*8. VAR_025189 Y Y ECO:0000269 PubMed:15770072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006253 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S212C; In allele CYP1A2*12. VAR_020851 Y Y ECO:0000269 PubMed:14563787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006254 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant T83M; In allele CYP1A2*9. VAR_020848 Y Y ECO:0000269 PubMed:14563787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006255 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/splice variant P05177-2;Isoform 2;Position 510:R->RL;In isoform 2. VSP_017123 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 140 3300006256 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R48G; In allele CYP1B1*2, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; dbSNP:rs10012. VAR_011752 rs10012 Y Y ECO:0000269 PubMed:10655546 PubMed:11527932 PubMed:11854439 PubMed:11980847 PubMed:12036985 PubMed:12525557 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006257 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. VAR_011753 rs1056827 Y Y ECO:0000269 PubMed:10426814 PubMed:10655546 PubMed:10739169 PubMed:11527932 PubMed:11854439 PubMed:12036985 PubMed:12525557 PubMed:14635112 PubMed:15475877 PubMed:16688110 submission: UniProtKB UPDATE ver_2 Changes in: EVID Variant has mixed effects on enzyme activity, did not change qualifier AAP, ASD 11/28/2012 148 3300006258 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A119S; In allele CYP1B1*2, allele CYP1B1*6 and allele CYP1B1*7; significantly associated with breast or lung cancer; no significant change in 17beta-estradiol 2- and 4-hydroxylation activities and 17beta-estradiol affinity; 1.5-fold reduction in testosterone affinity but nearly no change in testosterone 6beta-hydroxylation activity; 2-fold increase in progesterone 6beta- and 16alpha-hydroxylation activities and 5-fold reduction in progesterone affinity; dbSNP:rs1056827. VAR_011753 rs1056827 Y Y ECO:0000269 PubMed:10426814 PubMed:10655546 PubMed:10739169 PubMed:11527932 PubMed:11854439 PubMed:12036985 PubMed:12525557 PubMed:14635112 PubMed:15475877 PubMed:16688110 submission: UniProtKB UPDATE ver_2 Changes in: EVID Variant has mixed effects on enzyme activity, did not change qualifier AAP, ASD 11/28/2012 148 3300006260 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L432V; In allele CYP1B1*3, allele CYP1B1*5, allele CYP1B1*6 and allele CYP1B1*7; 1.6-fold increase in 17beta-estradiol 4-hydroxylation activity but no change in 17beta-estradiol 2-hydroxylation activity; 2-fold reduction in testosterone 6beta-hydroxylation activity and 3-fold reduction in testosterone affinity; 6-fold and 4-fold increase in progesterone 6beta- and 16alpha-hydroxylation activity, respectively and 7-fold reduction in progesterone affinity; dbSNP:rs1056836. VAR_001248 rs1056836 Y Y ECO:0000269 PubMed:10426814 PubMed:10655546 PubMed:10739169 PubMed:11527932 PubMed:11774072 PubMed:11854439 PubMed:11980847 PubMed:12036985 PubMed:12525557 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16688110 PubMed:9497261 PubMed:9823305 submission: UniProtKB UPDATE ver_2 Changes in: EVID Normal -> decreased based on progesterone hydroxylation activity (larger magnitude of effect) AAP, ASD 11/28/2012 148 3300006262 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D449E; In dbSNP:rs1056837. VAR_028738 rs1056837 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006263 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N453S; In allele CYP1B1*4; dbSNP:rs1800440. VAR_008355 rs1800440 Y Y ECO:0000269 PubMed:10655546 PubMed:11854439 PubMed:12036985 PubMed:12525557 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16688110 PubMed:9823305 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006264 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D374N; In GLC3A; dbSNP:rs28936413. VAR_001246 rs28936413 Y Y ECO:0000269 PubMed:10655546 PubMed:9463332 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006265 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. VAR_001244 rs28936700 Y Y ECO:0000269 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:16862072 PubMed:18470941 PubMed:9463332 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006269 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G61E; In GLC3A and POAG; allele CYP1B1*12; reduces enzymatic activity; dbSNP:rs28936700. VAR_001244 rs28936700 Y Y ECO:0000269 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:16862072 PubMed:18470941 PubMed:9463332 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006271 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R469W; In GLC3A; allele CYP1B1*25; dbSNP:rs28936701. VAR_001247 rs28936701 Y Y ECO:0000269 PubMed:10655546 PubMed:16735994 PubMed:9463332 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006273 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D441H; In dbSNP:rs4986887. VAR_028737 rs4986887 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006275 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G365W; In GLC3A; allele CYP1B1*18; dbSNP:rs55771538. VAR_001245 rs55771538 Y Y ECO:0000269 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006280 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. VAR_008352 rs55989760 Y Y ECO:0000269 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006282 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E387K; In GLC3A and POAG; allele CYP1B1*20; dbSNP:rs55989760. VAR_008352 rs55989760 Y Y ECO:0000269 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006284 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390H; In GLC3A; allele CYP1B1*21; dbSNP:rs56010818. VAR_008353 rs56010818 Y Y ECO:0000269 PubMed:15342693 PubMed:15475877 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006286 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P437L; In GLC3A; allele CYP1B1*23; dbSNP:rs56175199. VAR_008354 rs56175199 Y Y ECO:0000269 PubMed:12036985 PubMed:15475877 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006288 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P379L; In allele CYP1B1*19; dbSNP:rs56305281. VAR_008351 rs56305281 Y Y ECO:0000269 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006290 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. VAR_054243 rs57865060 Y Y ECO:0000269 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16688110 PubMed:16735994 PubMed:16862072 PubMed:18470941 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006291 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E229K; In GLC3A and POAG; juvenile-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs57865060. VAR_054243 rs57865060 Y Y ECO:0000269 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16688110 PubMed:16735994 PubMed:16862072 PubMed:18470941 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006293 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V198I; In GLC3A; dbSNP:rs59472972. VAR_054240 rs59472972 Y Y ECO:0000269 PubMed:11527932 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006295 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q68R; In dbSNP:rs9282670. VAR_028735 rs9282670 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006297 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Y81N; In POAG; adult-onset; hypomorphic allele; reduces the abundance of the enzyme; dbSNP:rs9282671. VAR_028736 rs9282671 Y Y ECO:0000269 PubMed:15342693 PubMed:16735994 PubMed:16862072 PubMed:18470941 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006298 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S206N; In dbSNP:rs9341248. VAR_018869 rs9341248 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006300 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R266L; In dbSNP:rs9341250. VAR_018870 rs9341250 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006301 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A115P; In GLC3A. VAR_054230 Y Y ECO:0000269 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006310 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A189P; Associated with ocular hypertension susceptibility. VAR_054237 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006312 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330S; Associated with ocular hypertension susceptibility. VAR_054249 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006316 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A388T; In GLC3A. VAR_054254 Y Y ECO:0000269 PubMed:16490498 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006318 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D192V; In GLC3A. VAR_054238 Y Y ECO:0000269 PubMed:11527932 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006320 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D530G; In POAG. VAR_054268 Y Y ECO:0000269 PubMed:16688110 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006322 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E499G; In GLC3A. VAR_054264 Y Y ECO:0000269 PubMed:11527932 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006324 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant F445C; In GLC3A. VAR_054262 Y Y ECO:0000269 PubMed:14640114 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 11/28/2012 148 3300006326 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G184S; VAR_054236 Y Y ECO:0000269 PubMed:11980847 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006328 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G232R; In GLC3A and POAG; adult-onset. VAR_054244 Y Y ECO:0000269 PubMed:14635112 PubMed:15342693 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006329 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G232R; In GLC3A and POAG; adult-onset. VAR_054244 Y Y ECO:0000269 PubMed:14635112 PubMed:15342693 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006331 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G466D; In GLC3A. VAR_054263 Y Y ECO:0000269 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006333 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant I399S; In GLC3A. VAR_054257 Y Y ECO:0000269 PubMed:14635112 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006335 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L77P; In GLC3A. VAR_054229 Y Y ECO:0000269 PubMed:10655546 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006339 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant M132R; In GLC3A. VAR_054231 Y Y ECO:0000269 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006341 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N203S; In GLC3A; reduces enzymatic activity. VAR_054241 Y Y ECO:0000269 PubMed:18470941 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006343 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N423Y; In GLC3A and POAG; juvenile-onset. VAR_054260 Y Y ECO:0000269 PubMed:14635112 PubMed:15342693 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006345 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant N423Y; In GLC3A and POAG; juvenile-onset. VAR_054260 Y Y ECO:0000269 PubMed:14635112 PubMed:15342693 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006347 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P52L; VAR_054228 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006351 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144H; VAR_054232 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006352 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144P; In GLC3A. VAR_054233 Y Y ECO:0000269 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006353 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144R; In GLC3A. VAR_054234 Y Y ECO:0000269 PubMed:14640114 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 11/28/2012 148 3300006355 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R145W; In POAG. VAR_054235 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006357 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390C; In GLC3A. VAR_054255 Y Y ECO:0000269 PubMed:15255109 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006359 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R444Q; In GLC3A. VAR_054261 Y Y ECO:0000269 PubMed:11527932 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006363 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R523T; In POAG; juvenile-onset. VAR_054267 Y Y ECO:0000269 PubMed:16688110 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006365 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S239R; In GLC3A. VAR_054245 Y Y ECO:0000269 PubMed:15475877 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006369 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S28W; In POAG. VAR_054227 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006371 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V364M; In GLC3A. VAR_054253 Y Y ECO:0000269 PubMed:11184479 PubMed:11527932 PubMed:12525557 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006377 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V409F; In POAG. VAR_054258 Y Y ECO:0000269 PubMed:16862072 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006379 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V422G; VAR_054259 Y Y ECO:0000269 PubMed:16490498 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006381 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V518A; VAR_054266 Y Y ECO:0000269 PubMed:16688110 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006382 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant W57C; In POAG; juvenile onset; allele CYP1B1*11. VAR_008350 Y Y ECO:0000269 PubMed:16688110 PubMed:9497261 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 148 3300006383 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant K262R; In allele CYP2B6*4, allele CYP2B6*6, allele CYP2B6*7 and allele CYP2B6*13; slight decrease in activity; dbSNP:rs2279343. VAR_016926 rs2279343 Y Y ECO:0000269 PubMed:11470993 PubMed:12642465 PubMed:15469410 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006385 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant I328T; In dbSNP:rs28399499. VAR_024716 rs28399499 Y Y ECO:0000269 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006386 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R487C; In allele CYP2B6*5 and allele CYP2B6*7; dbSNP:rs3211371. VAR_016929 rs3211371 Y Y ECO:0000269 PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006387 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R29S; In dbSNP:rs33926104. VAR_025208 rs33926104 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006388 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant T26S; In dbSNP:rs33973337. VAR_025206 rs33973337 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006389 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant D28G; In dbSNP:rs33980385. VAR_025207 rs33980385 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006390 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant N289K; In dbSNP:rs34277950. VAR_025209 rs34277950 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006391 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R29P; In dbSNP:rs34284776. VAR_033819 rs34284776 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006392 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant T306S; In dbSNP:rs34698757. VAR_025210 rs34698757 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006393 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant Q21L; In allele CYP2B6*10; dbSNP:rs34883432. VAR_023563 rs34883432 Y Y ECO:0000269 PubMed:15190123 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006394 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant M46V; In allele CYP2B6*11; dbSNP:rs35303484. VAR_023564 rs35303484 Y Y ECO:0000269 PubMed:15190123 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006395 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R140Q; In allele CYP2B6*14; dbSNP:rs35773040. VAR_023566 rs35773040 Y Y ECO:0000269 PubMed:15190123 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006396 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant I391N; In allele CYP2B6*15; dbSNP:rs35979566. VAR_023567 rs35979566 Y Y ECO:0000269 PubMed:15190123 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006397 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant G99E; In allele CYP2B6*12; dbSNP:rs36060847. VAR_023565 rs36060847 Y Y ECO:0000269 PubMed:15190123 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006398 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant Q172H; In allele CYP2B6*6, allele CYP2B6*7, allele CYP2B6*9 and allele CYP2B6*13; dbSNP:rs3745274. VAR_016925 rs3745274 Y Y ECO:0000269 PubMed:11243870 PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006399 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant P167A; In dbSNP:rs3826711. VAR_016924 rs3826711 Y Y ECO:0000269 PubMed:12721789 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006400 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant S259R; In allele CYP2B6*3; dbSNP:rs45482602. VAR_016928 rs45482602 Y Y ECO:0000269 PubMed:11470993 PubMed:12642465 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006401 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant R22C; In allele CYP2B6*2 and allele CYP2B6*10; dbSNP:rs8192709. VAR_016927 rs8192709 Y Y ECO:0000269 PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 143 3300006402 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Feature/sequence variant T385M; In dbSNP:rs2281891. VAR_001254 rs2281891 Y Y ECO:0000269 PubMed:2009263 PubMed:8333835 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 116 3300006404 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant E92D; In dbSNP:rs17878459. VAR_021270 rs17878459 Y Y ECO:0000269 PubMed:9732415 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006406 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R410C; In allele CYP2C19*13; dbSNP:rs17879685. VAR_021274 rs17879685 Y Y ECO:0000269 PubMed:12464799 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006407 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant I19L; In allele CYP2C19*15; dbSNP:rs17882687. VAR_021269 rs17882687 Y Y ECO:0000269 PubMed:12464799 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006408 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R144H; In allele CYP2C19*9; dbSNP:rs17884712. VAR_021272 rs17884712 Y Y ECO:0000269 PubMed:12464799 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006409 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant E122A; In dbSNP:rs17885179. VAR_021271 rs17885179 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006410 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant M74T; In dbSNP:rs28399505. VAR_024718 rs28399505 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006411 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant F168L; In dbSNP:rs28399510. VAR_024719 rs28399510 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006412 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant V331I; In allele CYP2C19*1A, allele CYP2C19*5A, allele CYP2C19*8 and allele CYP2C19*16; dbSNP:rs3758581. VAR_001255 rs3758581 Y Y ECO:0000269 PubMed:15469410 PubMed:16141610 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006413 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant W120R; In allele CYP2C19*8; loss of activity; dbSNP:rs41291556. VAR_008357 rs41291556 Y Y ECO:0000269 PubMed:10411572 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006414 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant L17P; In allele CYP2C19*14; dbSNP:rs55752064. VAR_021268 rs55752064 Y Y ECO:0000269 PubMed:12464799 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006415 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R433W; In allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013. VAR_008359 rs56337013 Y Y ECO:0000269 PubMed:10022751 PubMed:9103550 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006416 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R150H; In allele CYP2C19*11; dbSNP:rs58973490. VAR_021273 rs58973490 Y Y ECO:0000269 PubMed:12464799 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006417 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant P227L; In allele CYP2C19*10; dbSNP:rs6413438. VAR_020123 rs6413438 Y Y ECO:0000269 PubMed:12464799 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006418 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R132Q; In allele CYP2C19*6; loss of activity. VAR_008358 Y Y ECO:0000269 PubMed:9732415 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006420 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R329H; In allele CYP2C19*18. VAR_024085 Y Y ECO:0000269 PubMed:16141610 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006421 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant S51G; In allele CYP2C19*19. VAR_024083 Y Y ECO:0000269 PubMed:16141610 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006423 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I244V; In dbSNP:rs11572102. VAR_018958 rs11572102 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 150 3300006427 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant L390S; VAR_016947 Y Y ECO:0000269 PubMed:12429347 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 150 3300006432 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant Y358C; In dbSNP:rs1057909. VAR_008344 rs1057909 Y Y ECO:0000269 PubMed:3032244 PubMed:3196692 PubMed:9110362 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006436 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant I359L; In allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype; dbSNP:rs1057910. VAR_008345 rs1057910 Y Y ECO:0000269 PubMed:15469410 PubMed:8946475 PubMed:9110362 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006437 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R144C; In allele CYP2C9*2; dbSNP:rs1799853. VAR_008343 rs1799853 Y Y ECO:0000269 PubMed:15469410 PubMed:15489334 PubMed:2827463 PubMed:3697070 PubMed:8946475 PubMed:9110362 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 152 3300006439 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant H251R; In allele CYP2C9*9; dbSNP:rs2256871. VAR_018864 rs2256871 Y Y ECO:0000269 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006440 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R335W; In allele CYP2C9*11; dbSNP:rs28371685. VAR_018866 rs28371685 Y Y ECO:0000269 PubMed:11926893 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006441 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant D360E; In allele CYP2C9*5; increases the K(m) value for substrates tested; dbSNP:rs28371686. VAR_013516 rs28371686 Y Y ECO:0000269 PubMed:11455026 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006442 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant L413P; In dbSNP:rs28371687. VAR_024717 rs28371687 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006443 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant I359T; In allele CYP2C9*4; dbSNP:rs56165452. VAR_013515 rs56165452 Y Y ECO:0000269 PubMed:10739176 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006444 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R150H; In allele CYP2C9*8; dbSNP:rs7900194. VAR_018863 rs7900194 Y Y ECO:0000269 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006445 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant E272G; In allele CYP2C9*10; dbSNP:rs9332130. VAR_018865 rs9332130 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006446 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant P489S; In allele CYP2C9*12; dbSNP:rs9332239. VAR_018867 rs9332239 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006447 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant G417D; VAR_008346 Y Y ECO:0000269 PubMed:3032244 PubMed:3196692 PubMed:9110362 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006448 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant L19I; In allele CYP2C9*7. VAR_018862 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 152 3300006449 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A300G; In dbSNP:rs1058170. VAR_045680 rs1058170 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006452 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R365H; In dbSNP:rs1058172. VAR_045681 rs1058172 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006453 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant P34S; In allele CYP2D6*10 and allele CYP2D6*14; poor debrisquone metabolism; dbSNP:rs1065852. VAR_008336 rs1065852 Y Y ECO:0000269 PubMed:15469410 PubMed:25469868 PubMed:8287064 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 146 3300006454 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant F120I; In dbSNP:rs1135822. VAR_024722 rs1135822 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006455 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant P469A; In dbSNP:rs1135833. VAR_024725 rs1135833 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006456 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant S486T; In allele CYP2D6*2, allele CYP2D6*10, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; impaired metabolism of sparteine; dbSNP:rs1135840. VAR_008341 rs1135840 Y Y ECO:0000269 PubMed:10591208 PubMed:15469410 PubMed:15489334 PubMed:15768052 PubMed:25469868 PubMed:8287064 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 146 3300006457 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L231P; In dbSNP:rs17002853. VAR_045679 rs17002853 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006459 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant S311L; In dbSNP:rs1800754. VAR_014633 rs1800754 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006460 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R26H; In allele CYP2D6*21 and allele CYP2D6*46; dbSNP:rs28371696. VAR_008367 rs28371696 Y Y ECO:0000269 PubMed:15469410 PubMed:15768052 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006461 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L91M; In dbSNP:rs28371703. VAR_024720 rs28371703 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006462 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H94R; In dbSNP:rs28371704. VAR_024721 rs28371704 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006463 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant T107I; In allele CYP2D6*17; poor debrisquone metabolism; dbSNP:rs28371706. VAR_008337 rs28371706 Y Y ECO:0000269 PubMed:15469410 PubMed:8971426 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006464 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E155K; In allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; dbSNP:rs28371710. VAR_024723 rs28371710 Y Y ECO:0000269 PubMed:15469410 PubMed:15768052 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006465 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A237S; In allele CYP2D6*33; dbSNP:rs28371717. VAR_008370 rs28371717 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006466 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H478Y; In dbSNP:rs28371735. VAR_024726 rs28371735 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006467 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G373S; In dbSNP:rs2856959. VAR_059151 rs2856959 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006468 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R329L; In dbSNP:rs3915951. VAR_059150 rs3915951 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006469 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G42R; In allele CYP2D6*12; impaired metabolism of sparteine; dbSNP:rs5030862. VAR_001256 rs5030862 Y Y ECO:0000269 PubMed:8655150 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006470 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G212E; In allele CYP2D6*6B and allele CYP2D6*6C; dbSNP:rs5030866. VAR_008339 rs5030866 Y Y ECO:0000269 PubMed:7868129 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006471 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H324P; In allele CYP2D6*7; loss of activity; dbSNP:rs5030867. VAR_008348 rs5030867 Y Y ECO:0000269 PubMed:7845481 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006472 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant V11M; In allele CYP2D6*35; dbSNP:rs769258. VAR_008366 rs769258 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006473 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A85V; In allele CYP2D6*23. VAR_008369 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006475 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E410K; In allele CYP2D6*27. VAR_008374 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006476 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E418K; VAR_024724 Y Y ECO:0000269 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006477 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant G169R; In allele CYP2D6*14; poor debrisquone metabolism. VAR_008338 Y Y ECO:0000269 PubMed:10064570 UniProtKB UPDATE ver_2 Changes in: EVID should be ""debrisoquine""; contact UniProt to fix typo. AAP, DGA, ASD 1/9/2013 146 3300006478 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant I297L; In allele CYP2D6*24. VAR_008371 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006480 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant I369T; In allele CYP2D6*26. VAR_008373 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006481 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R28C; In allele CYP2D6*22. VAR_008368 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006482 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R343G; In allele CYP2D6*25. VAR_008372 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 146 3300006483 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant H457L; In dbSNP:rs28969387. VAR_024727 rs28969387 Y Y ECO:0000269 PubMed:15469410 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 144 3300006485 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant N219D; In dbSNP:rs41299426. VAR_055382 rs41299426 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 144 3300006486 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant S366C; In dbSNP:rs41299434. VAR_055383 rs41299434 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 144 3300006487 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant V389I; In allele CYP2E1*3; dbSNP:rs55897648. VAR_008362 rs55897648 Y Y ECO:0000269 PubMed:9058590 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 144 3300006488 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant V179I; In allele CYP2E1*4; dbSNP:rs6413419. VAR_008361 rs6413419 Y Y ECO:0000269 PubMed:15469410 PubMed:9918138 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 144 3300006489 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant R49S; In dbSNP:rs11572190. VAR_029159 rs11572190 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006491 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant V113M; In dbSNP:rs11572242. VAR_029160 rs11572242 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006492 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant N124S; In dbSNP:rs2228113. VAR_022084 rs2228113 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006493 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant T143A; In allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213. VAR_014317 rs55753213 Y Y ECO:0000269 PubMed:11901223 UniProtKB UPDATE ver_2 Changes in: EVID Checked ref. Normal -> decreased. AAP, DGA, ASD 11/28/2012 121 3300006494 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant D342N; In allele CYP2J2*5; no change in activity; dbSNP:rs56053398. VAR_014320 rs56053398 Y Y ECO:0000269 PubMed:11901223 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006495 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant R158C; In allele CYP2J2*3; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs56307989. VAR_014318 rs56307989 Y Y ECO:0000269 PubMed:11901223 UniProtKB UPDATE ver_2 Changes in: EVID Checked ref. Normal -> decreased. AAP, DGA, ASD 11/28/2012 121 3300006496 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant N404Y; In allele CYP2J2*6; significantly reduced metabolism of both arachidonic acid and linoleic acid. VAR_014321 Y Y ECO:0000269 PubMed:11901223 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006498 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T349N; In dbSNP:rs10250778. VAR_037549 rs10250778 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006501 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant I431T; In dbSNP:rs1041988. VAR_037550 rs1041988 Y Y ECO:0000269 PubMed:2463251 PubMed:3464943 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006502 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T185S; In allele CYP3A4*16; dbSNP:rs12721627. VAR_011604 rs12721627 Y Y ECO:0000269 PubMed:11875366 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006503 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L373F; In allele CYP3A4*12; has an altered testosterone hydroxylase activity; dbSNP:rs12721629. VAR_011607 rs12721629 Y Y ECO:0000269 PubMed:11470997 PubMed:11875366 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006504 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L15P; In allele CYP3A4*14; dbSNP:rs12721634. VAR_011597 rs12721634 Y Y ECO:0000269 PubMed:11875366 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006505 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant L293P; In allele CYP3A4*18; exhibits higher turnover numbers for testosterone and chlorpyrifos; dbSNP:rs28371759. VAR_014323 rs28371759 Y Y ECO:0000269 PubMed:11714865 PubMed:15469410 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006506 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant K96E; In dbSNP:rs3091339. VAR_037547 rs3091339 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006507 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant S252A; In dbSNP:rs3208363. VAR_037548 rs3208363 Y Y ECO:0000269 PubMed:3460094 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006508 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant R162Q; In allele CYP3A4*15; dbSNP:rs4986907. VAR_011601 rs4986907 Y Y ECO:0000269 PubMed:11714865 PubMed:11875366 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006509 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P416L; In allele CYP3A4*13; lack of expression; dbSNP:rs4986909. VAR_011608 rs4986909 Y Y ECO:0000269 PubMed:11470997 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006510 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant M445T; In allele CYP3A4*3; dbSNP:rs4986910. VAR_008364 rs4986910 Y Y ECO:0000269 PubMed:10668853 PubMed:11714865 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006511 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P467S; In allele CYP3A4*19; dbSNP:rs4986913. VAR_014324 rs4986913 Y Y ECO:0000269 PubMed:11714865 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006512 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant F189S; In allele CYP3A4*17; exhibits lower turnover numbers for testosterone and chlorpyrifos; dbSNP:rs4987161. VAR_014322 rs4987161 Y Y ECO:0000269 PubMed:11714865 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006513 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant S222P; In allele CYP3A4*2; exhibits a lower intrinsic clearance toward nifedipine; dbSNP:rs55785340. VAR_008363 rs55785340 Y Y ECO:0000269 PubMed:10668853 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006514 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant P218R; In allele CYP3A4*5; dbSNP:rs55901263. VAR_011605 rs55901263 Y Y ECO:0000269 PubMed:11181494 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006515 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant I118V; In allele CYP3A4*4; dbSNP:rs55951658. VAR_011599 rs55951658 Y Y ECO:0000269 PubMed:11181494 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006516 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant G56D; In allele CYP3A4*7; dbSNP:rs56324128. VAR_011598 rs56324128 Y Y ECO:0000269 PubMed:11470997 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006517 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant R130Q; In allele CYP3A4*8. VAR_011600 Y Y ECO:0000269 PubMed:11470997 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006519 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant V170I; In allele CYP3A4*9. VAR_011602 Y Y ECO:0000269 PubMed:11470997 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 154 3300006521 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site E321A; Loss of covalent heme binding. Y Y ECO:0000269 PubMed:11821421 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006523 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site G130S; Loss of activity. Y Y ECO:0000269 PubMed:15611369 UniProtKB UPDATE ver_2 Changes in: EVID Decreased -> abolished AAP, DGA, ASD 11/28/2012 121 3300006524 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant F434S; Associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity; dbSNP:rs1126742. VAR_019160 rs1126742 Y Y ECO:0000269 PubMed:15611369 PubMed:15895287 PubMed:8274222 PubMed:8363569 submission: UniProtKB UPDATE ver_2 Changes in: EVID May want to change to Decrease AAP, DGA, ASD 11/28/2012 121 3300006525 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant N226S; In dbSNP:rs12759923. VAR_048452 rs12759923 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006527 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant S353G; VAR_044377 Y Y ECO:0000269 PubMed:15895287 PubMed:8363569 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006529 Rose Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/splice variant Q02928-2;Isoform 2;Position 356-519:Missing;In isoform 2. VSP_034595 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 121 3300006530 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant C231R; Allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs10789501. VAR_044357 rs10789501 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006531 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant R126W; In allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs12564525. VAR_044351 rs12564525 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006532 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant N152Y; In allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056899. VAR_044353 rs2056899 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006533 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant G130S; In allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs2056900. VAR_044352 rs2056900 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006534 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant L428P; In allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15; dbSNP:rs2405599. VAR_044359 rs2405599 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006535 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant M491I; In dbSNP:rs2758714. VAR_044360 rs2758714 Y Y ECO:0000269 PubMed:10860550 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006536 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant K121R; In dbSNP:rs2758717. VAR_044350 rs2758717 Y Y ECO:0000269 PubMed:10860550 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006537 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant C230S; In dbSNP:rs35156123. VAR_044356 rs35156123 Y Y ECO:0000269 PubMed:15611369 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006538 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant S226N; In dbSNP:rs35202523. VAR_044355 rs35202523 Y Y ECO:0000269 PubMed:15611369 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006539 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant L509F; In allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600. VAR_044361 rs4926600 Y Y ECO:0000269 PubMed:15611369 PubMed:16806293 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006540 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant Y104F; In dbSNP:rs61507155. VAR_061045 rs61507155 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006541 Rose Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/splice variant Q5TCH4-2;Isoform 2;Position 356-519:Missing;In isoform 2. VSP_034584 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 75 3300006545 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs57519667. VAR_060265 rs57519667 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 112 3300006547 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant C276R; In dbSNP:rs8104361. VAR_060266 rs8104361 Y Y ECO:0000269 PubMed:10964514 PubMed:14702039 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP 11/28/2012 112 3300006548 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant A269D; In dbSNP:rs1805040. VAR_020125 rs1805040 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006549 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant S7Y; In dbSNP:rs3093104. VAR_013116 rs3093104 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006551 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant W12G; In dbSNP:rs3093105. VAR_013117 rs3093105 Y Y ECO:0000269 PubMed:15489334 PubMed:9799565 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 11/28/2012 125 3300006552 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant G185V; In dbSNP:rs3093153. VAR_013118 rs3093153 Y Y ECO:0000269 PubMed:14702039 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006553 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant L519M; In dbSNP:rs3093200. VAR_013120 rs3093200 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 125 3300006554 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant S178C; In dbSNP:rs16980531. VAR_033118 rs16980531 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 84 3300006555 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant K505Q; In dbSNP:rs7256787. VAR_033119 rs7256787 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 84 3300006556 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant A269D; In dbSNP:rs1805040. VAR_001258 rs1805040 Y Y ECO:0000269 PubMed:8486631 PubMed:9539102 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 129 3300006567 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant I271T; In dbSNP:rs28371479. VAR_020665 rs28371479 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 129 3300006568 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant V270I; In dbSNP:rs28371536. VAR_020664 rs28371536 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 129 3300006569 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant H96Q; In dbSNP:rs34923393. VAR_048457 rs34923393 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 129 3300006570 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant Y106C; In dbSNP:rs35888783. VAR_048458 rs35888783 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 129 3300006571 Rose P98187 11283 CYP4F8 Homo sapiens 9606 Feature/mutagenesis site G328E; No effect on U-44069 and U-51605 hydroxylation. 20:4n-6 hydroxylation shifted from C-18 to C-19. Y Y ECO:0000269 PubMed:16112640 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 106 3300006572 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Feature/sequence variant P447Q; In dbSNP:rs2056822. VAR_038348 rs2056822 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 106 3300006573 Faith P98187 11283 CYP4F8 Homo sapiens 9606 Feature/sequence variant Y125F; No effect on U-44069 and 9,11-diazo-prostadienoic acid (U-51605) hydroxylation; loss of 20:4n-6 or 22:5n-6 oxidation; dbSNP:rs2072600. VAR_038347 rs2072600 Y Y ECO:0000269 PubMed:16112640 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 106 3300006574 Katie P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141{DC}; Complete loss of activity. Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 143 3300006575 Katie P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141Q; Partial loss of activity. Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 143 3300006576 Katie P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351K; In dbSNP:rs1126464. VAR_061375 rs1126464 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 143 3300006577 Katie P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351Q; In dbSNP:rs1126464. VAR_061376 rs1126464 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 143 3300006578 Katie P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant R246H; In a colorectal cancer sample; somatic mutation. VAR_036496 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 143 3300006579 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Feature/sequence variant H468D; In dbSNP:rs1133090. VAR_033894 rs1133090 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 83 3300006581 Katie Q9H4A9 64174 DPEP2 Homo sapiens 9606 Feature/sequence variant P201R; In dbSNP:rs255051. VAR_060230 rs255051 Y Y ECO:0000269 PubMed:12975309 PubMed:14702039 PubMed:15489334 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 83 3300006582 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Feature/sequence variant T216A; In dbSNP:rs17855038. VAR_039039 rs17855038 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 90 3300006584 Faith Q9NXB9 54898 ELOVL2 Homo sapiens 9606 Feature/sequence variant V225M; In dbSNP:rs6919726. VAR_039040 rs6919726 Y Y UniProtKB AAP, ASD 4/3/2013 90 3300006585 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/mutagenesis site C522S; Loss of S-(15-deoxy-Delta12,14-prostaglandin J2-9-yl)cysteine-induced inhibition of epoxide hydrolase activity. Y Y ECO:0000269 PubMed:21164107 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006589 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/mutagenesis site D9A; Loss of phosphatase activity. Y Y ECO:0000269 PubMed:12574508 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006590 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R103C; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs17057255. VAR_033991 rs17057255 Y Y ECO:0000269 PubMed:12869654 PubMed:15196990 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006591 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant K55R; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs41507953. VAR_051059 rs41507953 Y Y ECO:0000269 PubMed:12869654 PubMed:15196990 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006592 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant C154Y; Decreased phosphatase activity; no effect on epoxyde hydrolase activity; dbSNP:rs57699806. VAR_055394 rs57699806 Y Y ECO:0000269 PubMed:12869654 PubMed:15196990 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006593 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R287Q; No effect on phosphatase activity; decreased epoxyde hydrolase activity; dbSNP:rs751141. VAR_014852 rs751141 Y Y ECO:0000269 PubMed:10862610 PubMed:12869654 PubMed:15196990 PubMed:8342951 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006594 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant G21A; VAR_055392 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006596 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant P225L; VAR_055395 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 131 3300006598 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R403RR; VAR_022613 Y Y ECO:0000269 PubMed:10862610 PubMed:14702039 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 131 3300006599 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site C454A; No effect on activity. Y Y ECO:0000269 PubMed:7759490 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006613 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site D422A; Reduces enzyme activity by 90%. Y Y ECO:0000269 PubMed:7759490 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006614 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site D423A; Abolishes enzyme activity. Increases KM by over 1000-fold. Y Y ECO:0000269 PubMed:7759490 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006615 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E102Q; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006616 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E108Q; Reduces enzyme activity by 98%. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006617 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H383A; Reduces enzyme activity by 66%. Y Y ECO:0000269 PubMed:8827453 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006618 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H505A; Reduces enzyme activity by 90%. Y Y ECO:0000269 PubMed:8827453 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006619 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site K100N; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006620 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107{QH}; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006621 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107K; Reduces enzyme activity by 99%. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006622 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R112Q; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006623 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R139Q; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006624 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R147Q; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006625 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R150Q; No effect on activity. Y Y ECO:0000269 PubMed:8095045 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006626 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S385A; No effect on activity. Y Y ECO:0000269 PubMed:7673200 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006627 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S413A; No effect on activity. Y Y ECO:0000269 PubMed:7673200 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006628 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S425A; No effect on activity. Y Y ECO:0000269 PubMed:7673200 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006629 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S451A; Reduces enzyme activity by 99%. Abolishes activity; when associated with A-452. Y Y ECO:0000269 PubMed:7673200 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006630 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S452A; Reduces enzyme activity by 99%. Abolishes activity; when associated with A-451. Y Y ECO:0000269 PubMed:7673200 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006631 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant V435A; In dbSNP:rs16986465. VAR_049181 rs16986465 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006632 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant N419D; In dbSNP:rs17004876. VAR_025546 rs17004876 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006633 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant S51L; In dbSNP:rs2330837. VAR_025545 rs2330837 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006634 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant K52E; In dbSNP:rs2330838. VAR_018373 rs2330838 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006635 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant A177V; In dbSNP:rs3895576. VAR_018374 rs3895576 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006636 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/sequence variant V272A; In dbSNP:rs4049829. VAR_018372 rs4049829 Y Y ECO:0000269 PubMed:1378736 PubMed:1968061 PubMed:2563599 PubMed:2568315 PubMed:2904146 PubMed:2907498 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006637 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-2;Isoform 2;Position 341-366:VVRNMTSEFFAAQLRAQISDDTTHPI->ASSGVSAGGPQHDLRVLRCPAPGPDL;In isoform 2. VSP_001746 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006638 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-2;Isoform 2;Position 367-569:Missing;In isoform 2. VSP_001747 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006639 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/splice variant P19440-3;Isoform 3;Position 1-344:Missing;In isoform 3. VSP_008132 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 148 3300006640 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant K330R; In dbSNP:rs2275984. VAR_028007 rs2275984 Y Y ECO:0000269 PubMed:10591208 PubMed:1676842 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 124 3300006641 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant L11I; In dbSNP:rs5760274. VAR_028006 rs5760274 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 124 3300006642 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant Q332H; In dbSNP:rs6004105. VAR_028008 rs6004105 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 124 3300006643 Rose P36269 2687 GGT5 Homo sapiens 9606 Feature/sequence variant I475V; In dbSNP:rs7288201. VAR_024455 rs7288201 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 124 3300006644 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Feature/sequence variant A58V; In dbSNP:rs11657054. VAR_038139 rs11657054 Y Y ECO:0000269 PubMed:14702039 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 69 3300006647 Faith Q6P531 124975 GGT6 Homo sapiens 9606 Feature/sequence variant R40W; In dbSNP:rs7216284. VAR_038138 rs7216284 Y Y ECO:0000269 PubMed:14702039 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 69 3300006648 Rose Q6P531 124975 GGT6 Homo sapiens 9606 Feature/splice variant Q6P531-2;Isoform 2;Position 116-147:Missing;In isoform 2. VSP_030451 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 69 3300006649 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-5;Isoform 3;B;Position 226-251:PGLLVGVPGMVKGLHEAHQLYGRLPW->VGTLVRRESSGESLFIALLLTQALIC;In isoform 3. VSP_008136 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 101 3300006653 Rose Q9UJ14 2686 GGT7 Homo sapiens 9606 Feature/splice variant Q9UJ14-5;Isoform 3;B;Position 252-662:Missing;In isoform 3. VSP_008137 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 101 3300006654 Faith Q13304 2840 GPR17 Homo sapiens 9606 Feature/splice variant Q13304-2;Isoform 2;Position 1-28:Missing;In isoform 2. VSP_001987 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 104 3300006658 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant P200L; Frequent polymorphism; dbSNP:rs1050450. VAR_007904 rs1050450 Y Y ECO:0000269 PubMed:10220143 PubMed:15247771 PubMed:15331559 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 155 3300006659 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant R5P; In dbSNP:rs8179169. VAR_020912 rs8179169 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 155 3300006660 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs17880492. VAR_020917 rs17880492 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 127 3300006666 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant P126L; In dbSNP:rs17881652. VAR_020916 rs17881652 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 127 3300006667 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant A37L; Requires 2 nucleotide substitutions. VAR_003615 Y Y ECO:0000269 PubMed:10806356 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 127 3300006668 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant I176M; VAR_003616 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 127 3300006669 Rose P22352 2878 GPX3 Homo sapiens 9606 Feature/sequence variant F128L; In dbSNP:rs8177445. VAR_020943 rs8177445 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300006670 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/mutagenesis site U73A; Loss of enzyme activity. Y Y ECO:0000269 PubMed:17630701 UniProtKB UPDATE ver_2 Changes in: EVID Reviewed by Faith Decreased -> abolished AAP, DGA, ASD 11/28/2012 137 3300006671 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/mutagenesis site U73C; Almost complete loss of enzyme activity. Y Y ECO:0000269 PubMed:17630701 UniProtKB UPDATE ver_2 Changes in: EVID Reviewed by Faith. Added missing PATO qualifier based on text parsed. AAP, DGA, ASD 11/28/2012 137 3300006672 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/sequence variant S2N; In dbSNP:rs8178967. VAR_017063 rs8178967 Y Y ECO:0000269 PubMed:12606444 submission: UniProtKB UPDATE ver_2 Changes in: EVID Reviewed by Faith AAP, DGA, ASD 11/28/2012 137 3300006673 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/sequence variant A120T; In a patient affected by cryptorchidism. VAR_017064 Y Y ECO:0000006 PubMed:12606444 UniProtKB TBD ver_2Reviewed by Faith Reviewed by Faith AAP, DGA, ASD 11/28/2012 137 3300006674 Rose P36969 2879 GPX4 Homo sapiens 9606 Feature/splice variant P36969-2;Isoform Cytoplasmic;Position 1-27:Missing;In isoform Cytoplasmic. VSP_018740 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 137 3300006676 Mike O75715 2880 GPX5 Homo sapiens 9606 Feature/sequence variant L85P; In dbSNP:rs58554303. VAR_061206 rs58554303 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 110 3300006677 Mike O75715 2880 GPX5 Homo sapiens 9606 Feature/sequence variant L85V; In dbSNP:rs769188. VAR_012040 rs769188 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 110 3300006678 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Y53H; In dbSNP:rs34825130. VAR_025251 rs34825130 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006680 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant D161G; In dbSNP:rs34955392. VAR_025257 rs34955392 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006681 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Y72N; In dbSNP:rs35062161. VAR_025253 rs35062161 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006682 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant E136D; In dbSNP:rs35394555. VAR_025254 rs35394555 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006683 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Q6L; In dbSNP:rs35510314. VAR_025249 rs35510314 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006684 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant P157S; In dbSNP:rs35658392. VAR_025256 rs35658392 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006685 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant V188A; In dbSNP:rs35701070. VAR_025258 rs35701070 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006686 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant V140M; In dbSNP:rs36055795. VAR_025255 rs36055795 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006687 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant F13L; In dbSNP:rs406113. VAR_025250 rs406113 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006688 Faith P59796 257202 GPX6 Homo sapiens 9606 Feature/sequence variant Q58H; In dbSNP:rs6922986. VAR_025252 rs6922986 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 84 3300006689 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148{EHN}; Reduced affinity for NAD and prostaglandin E2. Y Y ECO:0000269 PubMed:16828555 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006690 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148A; Loss of activity. Y Y ECO:0000269 PubMed:16828555 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006691 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Y151A; Loss of activity. Y Y ECO:0000269 PubMed:2025296 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006692 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant A140P; In COA; inactive. VAR_046209 Y Y ECO:0000269 PubMed:18500342 UniProtKB UPDATE ver_2 Changes in: EVID Normal -> abolished AAP, ASD 2/6/2013 135 3300006693 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant S193P; In ICNC. VAR_060792 Y Y ECO:0000269 PubMed:18805827 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006695 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant S193P; In ICNC. VAR_060792 Y Y ECO:0000269 PubMed:18805827 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006697 Katie P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant Y217C; VAR_006972 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006699 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-2;Isoform 2;Position 167-266:LAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ->PTIDCQWIDNTH;In isoform 2. VSP_043032 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006700 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-3;Isoform 3;Position 1-121:Missing;In isoform 3. VSP_045106 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006701 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-4;Isoform 4;Position 140-143:AGLM->AAHH;In isoform 4. VSP_045107 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006702 Rose P15428 3248 HPGD Homo sapiens 9606 Feature/splice variant P15428-4;Isoform 4;Position 144-266:Missing;In isoform 4. VSP_045108 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 135 3300006703 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D93N; Loss of activation by calcium or magnesium ions. Y Y ECO:0000269 PubMed:12627223 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300006704 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D96N; Increases PGD2 synthesis. Loss of activation by calcium or magnesium ions. Y Y ECO:0000269 PubMed:12627223 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300006705 Mike O60760 27306 HPGDS Homo sapiens 9606 Feature/mutagenesis site D97N; Reduces PGD2 synthesis by 99%. Loss of activation by calcium or magnesium ions. Y Y ECO:0000269 PubMed:12627223 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300006706 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173A; Increased activity towards PAPC. Increased PAPC/POPC activity ratio. Y Y ECO:0000269 PubMed:14636062 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006707 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173D; Little change in enzyme specific activity nor in PAPC/POPC activity ratio. Y Y ECO:0000269 PubMed:14636062 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006708 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173K; Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. Y Y ECO:0000269 PubMed:14636062 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006709 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173L; Increased activity towards PAPC. Increased PAPC/POPC activity ratio. Y Y ECO:0000269 PubMed:14636062 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006710 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/mutagenesis site E173Q; Decreased enzyme specific activity. Increased PAPC/POPC activity ratio. Y Y ECO:0000269 PubMed:14636062 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006711 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant A117T; In LCATD; dbSNP:rs28940886. VAR_004255 rs28940886 Y Y ECO:0000269 PubMed:8318557 PubMed:8432868 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006712 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R159W; In LCATD; dbSNP:rs28940887. VAR_004257 rs28940887 Y Y ECO:0000269 PubMed:8432868 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006714 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T345M; In LCATD; dbSNP:rs28940888. VAR_004266 rs28940888 Y Y ECO:0000269 PubMed:12957688 PubMed:8432868 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006716 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L233P; In LCATD; dbSNP:rs28942087. VAR_004262 rs28942087 Y Y ECO:0000269 PubMed:8432868 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006718 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S232T; In dbSNP:rs4986970. VAR_017030 rs4986970 Y Y ECO:0000269 PubMed:12957688 PubMed:12966036 PubMed:16874701 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006720 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant A165T; VAR_039029 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006721 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant EY134-135DN; In a patient with low HDL-cholesterol levels; results in reduced activity. VAR_066863 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID OMIM/MTHU003052:Decreased HDL cholesterol ; HP_0003233:Hypoalphalipoproteinemia AAP, DGA 11/28/2012 141 3300006722 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant F406V; In LCATD. VAR_039038 Y Y ECO:0000269 PubMed:12957688 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006723 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G54S; In LCATD. VAR_004253 Y Y ECO:0000269 PubMed:8807342 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006725 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G57R; In LCATD. VAR_004254 Y Y ECO:0000269 PubMed:7711728 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006727 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant G95R; In a compound heterozygote carrying H-164; intermediate phenotype between LCATD and FED; reduction of activity. VAR_039024 Y Y ECO:0000269 PubMed:16216249 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006729 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant K242N; In LCATD. VAR_039031 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006730 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L17LLLPPAAPFWL; In LCATD. VAR_004251 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006732 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L338F; In FED; results in reduced protein secretion and activity. VAR_066867 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006734 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant L396R; In a patient with LCATD. VAR_039037 Y Y ECO:0000269 PubMed:15994445 PubMed:16874701 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006736 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant M276K; In FED. VAR_004264 Y Y ECO:0000269 PubMed:1516702 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006738 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant M317I; In LCATD; partially defective enzyme. VAR_004265 Y Y ECO:0000269 PubMed:1681161 PubMed:1859405 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006740 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant N252K; In LCATD. VAR_004263 Y Y ECO:0000269 PubMed:1681161 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006742 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant N29I; In LCATD. VAR_039020 Y Y ECO:0000269 PubMed:9007616 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006744 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P331S; In LCATD. VAR_039035 Y Y ECO:0000269 PubMed:9741700 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006746 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P34L; In FED. VAR_004252 Y Y ECO:0000269 PubMed:1571050 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006748 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant P34Q; In FED. VAR_039021 Y Y ECO:0000269 PubMed:8620346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006750 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R123C; In FED. VAR_039026 Y Y ECO:0000269 PubMed:9261271 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006752 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R159Q; In FED. VAR_039027 Y Y ECO:0000269 PubMed:8620346 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006754 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R164C; In LCATD. VAR_039028 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006756 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R164H; In LCATD; also in a compound heterozygote carrying R-95 with intermediate phenotype between LCATD and FED; loss of activity. VAR_004258 Y Y ECO:0000269 PubMed:16216249 PubMed:7607641 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006758 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R171W; In LCATD. VAR_004259 Y Y ECO:0000269 PubMed:15994445 PubMed:2370048 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006760 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R182C; VAR_004261 Y Y ECO:0000269 PubMed:8318557 PubMed:8432868 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006762 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R268C; In a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. VAR_066865 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006763 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R268H; In LCATD. VAR_039032 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006764 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R322C; In a patient with low HDL-cholesterol levels; reduced protein secretion. VAR_066866 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID OMIM/MTHU003052:Decreased HDL cholesterol ; HP_0003233:Hypoalphalipoproteinemia AAP, DGA 11/28/2012 141 3300006766 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R347C; In FED; results in reduced activity. VAR_066868 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006767 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S115P; VAR_039025 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006769 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S205N; In LCATD. VAR_039030 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006770 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T147I; In FED. VAR_004256 Y Y ECO:0000269 PubMed:1737840 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006772 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298A; In FED and LCATD. VAR_039033 Y Y ECO:0000269 PubMed:11423760 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006774 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298A; In FED and LCATD. VAR_039033 Y Y ECO:0000269 PubMed:11423760 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006776 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T298I; In LCATD. VAR_039034 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006778 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T371M; In FED. VAR_004267 Y Y ECO:0000269 PubMed:1737840 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006780 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant T37M; In LCATD. VAR_039022 Y Y ECO:0000269 PubMed:9741700 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006782 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V246F; In a patient with low HDL-cholesterol levels; the mutant is hardly secreted and is catalytically inactive. VAR_066864 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006784 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V333M; In LCATD. VAR_039036 Y Y ECO:0000269 PubMed:15994445 PubMed:16051254 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006785 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant V70E; In FED. VAR_039023 Y Y ECO:0000269 PubMed:15994445 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006787 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant W99S; In FED; loss of activity. VAR_066862 Y Y ECO:0000269 PubMed:21901787 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006789 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant Y180N; In LCATD. VAR_004260 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 11/28/2012 141 3300006791 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant T16P; In dbSNP:rs1051338. VAR_004247 rs1051338 Y Y ECO:0000269 PubMed:14702039 PubMed:15489334 PubMed:1718995 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006793 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant G23R; In dbSNP:rs1051339. VAR_026523 rs1051339 Y Y ECO:0000269 PubMed:8725147 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006794 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant V29L; In dbSNP:rs17850891. VAR_026524 rs17850891 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006795 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant F228S; In dbSNP:rs2228159. VAR_049821 rs2228159 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006796 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129P; In CESD. VAR_004248 Y Y ECO:0000269 PubMed:9633819 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006797 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129P; In CESD. VAR_004248 Y Y ECO:0000269 PubMed:9633819 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006799 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129R; In CESD. VAR_004249 Y Y ECO:0000269 PubMed:9633819 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006801 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129R; In CESD. VAR_004249 Y Y ECO:0000269 PubMed:9633819 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006803 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant L200P; In CESD and WOD. VAR_004250 Y Y ECO:0000269 PubMed:8146180 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006805 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant L200P; In CESD and WOD. VAR_004250 Y Y ECO:0000269 PubMed:8146180 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 128 3300006807 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant S177T; In dbSNP:rs16975748. VAR_025111 rs16975748 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006813 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant Y100H; In dbSNP:rs16975750. VAR_025108 rs16975750 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006814 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant N499H; In dbSNP:rs33921216. VAR_025115 rs33921216 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006815 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant Q127H; In dbSNP:rs34080774. VAR_025109 rs34080774 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006816 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant P146S; In dbSNP:rs34348028. VAR_025110 rs34348028 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006817 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant A194V; In dbSNP:rs34996020. VAR_025112 rs34996020 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006818 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant K497N; In dbSNP:rs35938529. VAR_025114 rs35938529 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006819 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant R217Q; In dbSNP:rs3745238. VAR_025113 rs3745238 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006820 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant R938S; In dbSNP:rs7246232. VAR_025116 rs7246232 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006821 Faith Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant P146Q; In a breast cancer sample; somatic mutation. VAR_036539 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID breast cancer sample AAP, DGA, ASD 11/28/2012 118 3300006822 Rose Q05469 3991 LIPE Homo sapiens 9606 Feature/splice variant Q05469-2;Isoform 2;Position 1-301:Missing;In isoform 2. VSP_017116 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 118 3300006824 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant T111I; In dbSNP:rs2000813. VAR_017028 rs2000813 Y Y ECO:0000269 PubMed:12966036 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 117 3300006825 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant G26S; In dbSNP:rs9963243. VAR_034082 rs9963243 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 117 3300006826 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant G96S; VAR_017027 Y Y ECO:0000269 PubMed:12966036 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 117 3300006827 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant R312H; VAR_017029 Y Y ECO:0000269 PubMed:12966036 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 117 3300006828 Faith Q7L5N7 54947 LPCAT2 Homo sapiens 9606 Feature/sequence variant M163I; In dbSNP:rs837550. VAR_027058 rs837550 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 84 3300006831 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Feature/sequence variant I217T; In dbSNP:rs1984564. VAR_050028 rs1984564 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 82 3300006833 Faith Q6P1A2 10162 LPCAT3 Homo sapiens 9606 Feature/sequence variant F63L; In dbSNP:rs34196984. VAR_050027 rs34196984 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 1/9/2013 82 3300006834 Rose O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-2;Isoform 2;Position 1-69:MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDAT->MHGREAGPFVCVCVLLASIPTPQTPLLQASLPPFHPASAGHPITGQQ;In isoform 2. VSP_028568 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 5/1/2013 101 3300006836 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D372N; No loss of activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006850 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D374N; No loss of activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006851 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376A; Strongly reduced hydrolysis of peptides starting with Arg. Small effect on hydrolysis of peptides starting with Ala. Strongly reduced epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006852 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376E; Strongly reduced aminopeptidase activity. Abolishes epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006853 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D376N; Abolishes aminopeptidase and epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006854 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E272{AD}; Complete loss of activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006855 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E272Q; Loss of LTA4 activity, and aminopeptidase activity strongly impaired. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006856 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297A; Loss of both activities. Y Y ECO:0000269 PubMed:1357660 PubMed:1516710 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006857 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297K; Loss of both activities. Y Y ECO:0000269 PubMed:1357660 PubMed:1516710 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006858 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297Q; Loss of aminopeptidase activity, but keeps LTA4 activity. Y Y ECO:0000269 PubMed:1357660 PubMed:1516710 PubMed:18804029 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006859 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E319A; Complete loss of activity. Y Y ECO:0000269 PubMed:1881903 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006860 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E385Q; Reduced aminopeptidase activity. Minor effect on epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006861 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G269A; No loss of activity. Y Y ECO:0000269 PubMed:1881903 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006862 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G270A; No loss of activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006863 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H140Q; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006864 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H296Y; Complete loss of activity. Y Y ECO:0000269 PubMed:1881903 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006865 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H300L; Complete loss of activity. Y Y ECO:0000269 PubMed:1881903 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006866 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site K566{AM}; Strongly reduced affinity for peptide substrates. Reduced epoxide hydrolase and aminopeptidase activity. Y Y ECO:0000269 PubMed:15078870 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006867 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site K566R; No effect on epoxide hydrolase and aminopeptidase activity. Y Y ECO:0000269 PubMed:15078870 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006868 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site M271L; No loss of activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006869 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site N273A; No loss of activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006870 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135{AL}; Srongly increased epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006871 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q135A; Strongly reduced aminopeptidase activity. Strongly decreased affinity for leukotriene. Abolishes epoxide hydrolase activity. Y Y ECO:0000269 PubMed:11917124 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006872 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137A; No loss of activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006873 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137L; Aminopeptidase activity strongly impaired, but keeps LTA4 activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006874 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137N; Aminopeptidase activity almost absent, but keeps LTA4 activity. Y Y ECO:0000269 PubMed:11675384 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006875 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site R564{AKM}; Abolishes epoxide hydrolase activity. Reduced aminopeptidase activity. Y Y ECO:0000269 PubMed:15078870 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 2/6/2013 161 3300006876 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/sequence variant Y131H; In dbSNP:rs45630737. VAR_051570 rs45630737 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006877 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-2;Isoform 2;S-LTA4;Position 511-532:APLPLGHIKRMQEVYNFNAINN->MAAALHSIQVGGRNSFGAKDGN;In isoform 2 and isoform 3. VSP_041108 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006878 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-2;Isoform 2;S-LTA4;Position 533-611:Missing;In isoform 2 and isoform 3. VSP_041109 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006879 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 511-532:APLPLGHIKRMQEVYNFNAINN->MAAALHSIQVGGRNSFGAKDGN;In isoform 2 and isoform 3. VSP_041108 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006881 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 533-611:Missing;In isoform 2 and isoform 3. VSP_041109 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 161 3300006882 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/mutagenesis site S310A; No effect on affinity for leukotriene B4 or on desensitization by GRK6. Y Y ECO:0000269 PubMed:12077128 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 123 3300006883 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/mutagenesis site T308{PA}; No effect on affinity for leukotriene B4, induces resistance to desensitization by GRK6, but minor effect on phosphorylation by GRK6. Y Y ECO:0000269 PubMed:12077128 UniProtKB UPDATE ver_2 Changes in: EVID induces resistance to desensitization by GRK6 AAP, DGA, ASD 1/9/2013 123 3300006884 Faith Q15722 1241 LTB4R Homo sapiens 9606 Feature/sequence variant L346F; In dbSNP:rs17849864. VAR_060679 rs17849864 Y Y ECO:0000269 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 123 3300006885 Faith Q16873 4056 LTC4S Homo sapiens 9606 Feature/sequence variant R142Q; In dbSNP:rs11541078. VAR_042736 rs11541078 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 116 3300006887 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site D207A; Kinase defective mutant, abolishes activity. Y Y ECO:0000269 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006888 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site K353R; Induces decreased sumoylation and increase in protein kinase activity. Y Y ECO:0000269 PubMed:21131586 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006889 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site K93R; Kinase defective mutant, abolishes activity. Y Y ECO:0000269 PubMed:14517288 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006890 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site S272A; Strong decrease in kinase activity. Y Y ECO:0000269 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006891 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site S272D; Mimicks phosphorylation state, leading to slight increase of basal kinase activity. Y Y ECO:0000269 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006892 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222A; Strong decrease in kinase activity. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006893 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222D; Mimicks phosphorylation state, leading to slight increase of basal kinase activity. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006894 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222E; Mimicks phosphorylation state and constitutive protein kinase activity; when associated with E-334. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006895 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334{DE}; Mimicks phosphorylation state, leading to elevated basal kinase activity. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006896 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334A; Slight decrease in kinase activity. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006897 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334E; Mimicks phosphorylation state and constitutive protein kinase activity; when associated with E-222. Y Y ECO:0000269 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006898 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/sequence variant A173G; In dbSNP:rs35671930. VAR_040753 rs35671930 Y Y ECO:0000269 PubMed:17344846 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006899 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/sequence variant A361S; In dbSNP:rs55894011. VAR_040754 rs55894011 Y Y ECO:0000269 PubMed:17344846 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006900 Rose P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/splice variant P49137-2;Isoform 2;Position 354-400:EEMTSALATMRVDYEQIKIKKIEDASNPLLLKRRKKARALEAAALAH->GCLHDKNSDQATWLTRL;In isoform 2. VSP_004910 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 134 3300006901 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/sequence variant F261L; In dbSNP:rs17855385. VAR_038526 rs17855385 Y Y ECO:0000269 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 74 3300006902 Faith Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/sequence variant V415L; In dbSNP:rs35909464. VAR_038527 rs35909464 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 74 3300006903 Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/splice variant Q96N66-2;Isoform 2;Position 1-111:MSPEEWTYLVVLLISIPIGFLFKKAGPGLKRWGAAAVGLGLTLFTCGPHTLHSLVTILGTWALIQAQPCSCHALALAWTFSYLLFFRALSLLGLPTPTPFTNAVQLLLTLK->MGSSRCGPGAHPVHLWPPHFAFSGHHPRDLGPHSGPAL;In isoform 2. VSP_030967 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 74 3300006904 Rose Q96N66 79143 MBOAT7 Homo sapiens 9606 Feature/splice variant Q96N66-3;Isoform 3;Position 345-472:Missing;In isoform 3. VSP_030968 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 74 3300006905 Rose Q99735 4258 MGST2 Homo sapiens 9606 Feature/sequence variant A101V; In dbSNP:rs8192111. VAR_019997 rs8192111 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 110 3300006906 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/mutagenesis site C150S; Abolishes S-acylation; when associated with S-151. Y Y ECO:0000269 PubMed:21044946 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 110 3300006908 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/mutagenesis site C151S; Abolishes S-acylation; when associated with S-150. Y Y ECO:0000269 PubMed:21044946 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 110 3300006909 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/sequence variant G15C; In dbSNP:rs1802087. VAR_012061 rs1802087 Y Y UniProtKB AAP, ASD 4/3/2013 110 3300006910 Rose O14880 4259 MGST3 Homo sapiens 9606 Feature/sequence variant P48S; In dbSNP:rs1802088. VAR_012062 rs1802088 Y Y UniProtKB AAP, ASD 4/3/2013 110 3300006911 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Feature/sequence variant M316L; In dbSNP:rs17029947. VAR_049428 rs17029947 Y Y UniProtKB AAP, ASD 4/3/2013 92 3300006912 Faith Q8TDS5 165140 OXER1 Homo sapiens 9606 Feature/sequence variant L407V; In dbSNP:rs2278586. VAR_023940 rs2278586 Y Y ECO:0000269 PubMed:12606753 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 4/3/2013 92 3300006913 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Feature/mutagenesis site H23A; No effect on PPP2R1A-binding. Y Y ECO:0000269 PubMed:17374643 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/29/2013 109 3300006914 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Feature/mutagenesis site C113S; No effect on PPP2R1A-binding. Y Y ECO:0000269 PubMed:17374643 UniProtKB UPDATE ver_2 Changes in: EVID AAP 5/29/2013 109 3300006915 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant D16A; In dbSNP:rs5632. VAR_011911 rs5632 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 140 3300006916 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant N89T; In dbSNP:rs5635. VAR_011912 rs5635 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 140 3300006917 Mike P04054 5319 PLA2G1B Homo sapiens 9606 Feature/sequence variant N89K; In dbSNP:rs5636. VAR_011913 rs5636 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 140 3300006918 Mike P14555 5320 PLA2G2A Homo sapiens 9606 Feature/sequence variant H19Y; In dbSNP:rs11573162. VAR_018953 rs11573162 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 154 3300006919 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant S80G; In dbSNP:rs584367. VAR_012741 rs584367 Y Y ECO:0000269 PubMed:10455175 PubMed:14702039 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 115 3300006920 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121L; VAR_055391 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 115 3300006925 Rose Q9BZM2 64600 PLA2G2F Homo sapiens 9606 Feature/splice variant Q9BZM2-2;Isoform 2;Position 1:M->MADGAKANPKGFKKKVLDRCFSGWRGPRFGASCPSRTSRSSLGM;In isoform 2. VSP_037524 Y Y ECO:0000305 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 100 3300006926 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site H184Q; Loss of PGE2 synthesis. Y Y ECO:0000269 PubMed:12522102 PubMed:15863501 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006927 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N167S; Loss of glycosylation. Y Y ECO:0000269 PubMed:15863501 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006928 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N280S; Loss of glycosylation. Y Y ECO:0000269 PubMed:15863501 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006929 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant S322R; In dbSNP:rs2072193. VAR_024557 rs2072193 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006930 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant E116Q; In dbSNP:rs2074734. VAR_024556 rs2074734 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006931 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant L157V; In dbSNP:rs2074735. VAR_020288 rs2074735 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006932 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant S70A; In dbSNP:rs2232176. VAR_024555 rs2232176 Y Y ECO:0000269 PubMed:10713052 PubMed:15489334 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006933 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant H307Y; In dbSNP:rs2232180. VAR_056581 rs2232180 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006934 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/sequence variant R378Q; In dbSNP:rs2232183. VAR_034366 rs2232183 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 11/28/2012 110 3300006935 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C139A; No effect on phospholipase activity; when associated with A-141 and A-151. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006936 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C141A; No effect on phospholipase activity; when associated with A-139 and A-151. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006937 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C151A; No effect on phospholipase activity; when associated with A-139 and A-141. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006938 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C220A; No effect on phospholipase activity. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006939 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C324A; No effect on phospholipase activity; when associated with A-331. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006940 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C331A; No effect on phospholipase activity; when associated with A-324. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006941 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C620A; No effect on phospholipase activity; when associated with A-634. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006942 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C634A; No effect on phospholipase activity; when associated with A-620. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006943 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C726A; No effect on phospholipase activity. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006944 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549A; Abolishes phospholipiase activity. Y Y ECO:0000269 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006945 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549E; Reduces phospholipiase activity 2000-fold. Y Y ECO:0000269 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006946 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549N; Reduces phospholipiase activity 300-fold. Y Y ECO:0000269 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006947 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200{AH}; Abolishes phospholipase activity. Y Y ECO:0000269 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006948 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200K; Reduces phospholipase activity 200-fold. Y Y ECO:0000269 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006949 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S195A; 5-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-577. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006950 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S215A; No effect on phospholipase or lysophosphatase activity. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006951 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S228{ACT}; Abolishes both phospholipase and lysophosphatase activities. Y Y ECO:0000269 PubMed:8083230 PubMed:8619991 PubMed:8702602 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006952 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S505A; Decreases agonist-stimulated release of arachidonic acid. Y Y ECO:0000269 PubMed:8381049 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006953 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site S577A; 7-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-195. Y Y ECO:0000269 PubMed:8083230 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006954 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant V224I; In dbSNP:rs12720588. VAR_018760 rs12720588 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006955 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant R651K; In dbSNP:rs2307198. VAR_018424 rs2307198 Y Y ECO:0000269 PubMed:15489334 PubMed:18451993 PubMed:1869522 PubMed:1904318 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, ASD 11/28/2012 140 3300006956 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant G103R; In dbSNP:rs28395828. VAR_029276 rs28395828 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006957 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant I637V; In dbSNP:rs28395831. VAR_062128 rs28395831 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006958 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant H442Q; In a breast cancer sample; somatic mutation. VAR_035826 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 140 3300006959 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site D615A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006961 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site H417A; No effect. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006962 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site R632A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006963 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site S335A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006964 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/sequence variant R191C; In dbSNP:rs3816533. VAR_027047 rs3816533 Y Y ECO:0000269 PubMed:14702039 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006965 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/sequence variant M239I; In dbSNP:rs2290552. VAR_027048 rs2290552 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006966 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/sequence variant R391H; In dbSNP:rs34807597. VAR_034365 rs34807597 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006967 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/sequence variant T591I; In dbSNP:rs36126315. VAR_060082 rs36126315 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 45 3300006968 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-6;Isoform 5;Beta1;Position 1-3:MAV->MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEK;In isoform 2, isoform 3 and isoform 5. VSP_039387 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 3300006970 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-7;Isoform 2;beta2;Position 650-662:QLQLLGRFCQEQG->GSGGHPRRRQLGR;In isoform 2. VSP_039389 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 3300006971 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-7;Isoform 2;beta2;Position 663-781:Missing;In isoform 2. VSP_039390 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 3300006972 Rose P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-8;Isoform 3;beta3;Position 641-765:Missing;In isoform 3. VSP_039388 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID P0C869 also maps to GeneID 8681, which is the JMJD7-PLA2G4B fusion; do not use 8681. AAP 11/28/2012 45 3300006973 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site D385A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006974 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R402A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006975 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R54A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006976 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site S82A; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:10085124 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006977 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant E21K; In dbSNP:rs11564522. VAR_018761 rs11564522 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006978 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant A127V; In dbSNP:rs11564532. VAR_018762 rs11564532 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006979 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant V142F; In dbSNP:rs11564534. VAR_018763 rs11564534 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006980 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant P151L; In dbSNP:rs11564538. VAR_018765 rs11564538 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006981 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant T226S; In dbSNP:rs11564541. VAR_018766 rs11564541 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006982 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant T360P; In dbSNP:rs11564620. VAR_018767 rs11564620 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006983 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant D411N; In dbSNP:rs11564638. VAR_018768 rs11564638 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006984 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant S203P; In dbSNP:rs156631. VAR_018422 rs156631 Y Y ECO:0000269 PubMed:10085124 PubMed:14702039 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP 11/28/2012 93 3300006985 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant I143V; In dbSNP:rs2303744. VAR_018421 rs2303744 Y Y ECO:0000269 PubMed:14702039 submission: UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP 11/28/2012 93 3300006986 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant A38P; In dbSNP:rs2307279. VAR_018420 rs2307279 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006987 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant R148G; In dbSNP:rs2307282. VAR_018764 rs2307282 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 93 3300006988 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant P275R; In dbSNP:rs11635685. VAR_057676 rs11635685 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006990 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant A649G; In dbSNP:rs17690899. VAR_027050 rs17690899 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006991 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R573W; In dbSNP:rs17747505. VAR_027049 rs17747505 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006992 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R747G; In dbSNP:rs2459692. VAR_027051 rs2459692 Y Y ECO:0000269 PubMed:16213696 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006993 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant S434T; In dbSNP:rs4924618. VAR_057677 rs4924618 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006994 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R807Q; In dbSNP:rs750051. VAR_057679 rs750051 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006995 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant R783Q; In dbSNP:rs750052. VAR_057678 rs750052 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006996 Rose Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/splice variant Q86XP0-2;Isoform 2;Position 682-723:ALQQTELYCRARGLPFPRVEPSPQDQHQPRECHLFSDPACPE->VPWSPQGNPSAQPGQAPEASSRATEPLPHTAGVPKGRRGVRP;In isoform 2. VSP_019881 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006997 Rose Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/splice variant Q86XP0-2;Isoform 2;Position 724-818:Missing;In isoform 2. VSP_019882 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 82 3300006998 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Feature/sequence variant N388S; In dbSNP:rs4924595. VAR_027052 rs4924595 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 70 3300006999 Faith Q3MJ16 123745 PLA2G4E Homo sapiens 9606 Feature/sequence variant A681T; In dbSNP:rs8030775. VAR_027053 rs8030775 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 70 3300007000 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/sequence variant M740V; In dbSNP:rs1356410. VAR_027054 rs1356410 Y Y ECO:0000269 PubMed:17974005 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 72 3300007002 Faith Q68DD2 255189 PLA2G4F Homo sapiens 9606 Feature/sequence variant G30V; In dbSNP:rs636604. VAR_053553 rs636604 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 72 3300007003 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G49S; In FRFB. VAR_067344 Y Y ECO:0000269 PubMed:22137173 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 123 3300007011 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G49S; In FRFB. VAR_067344 Y Y ECO:0000269 PubMed:22137173 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 11/28/2012 123 3300007013 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant V58I; In dbSNP:rs11570605. VAR_018961 rs11570605 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007015 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R63G; In dbSNP:rs11570606. VAR_018962 rs11570606 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007016 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R70Q; In dbSNP:rs11570607. VAR_018963 rs11570607 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007017 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant D183N; In dbSNP:rs11570646. VAR_018964 rs11570646 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007018 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant A343T; In dbSNP:rs11570680. VAR_018965 rs11570680 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007019 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant S774T; In dbSNP:rs34184838. VAR_037903 rs34184838 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007020 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant K545T; In NBIA2B. VAR_029372 Y Y ECO:0000269 PubMed:16783378 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007023 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R632W; In NBIA2B. VAR_029373 Y Y ECO:0000269 PubMed:16783378 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007025 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R741Q; In PARK14. VAR_062530 Y Y ECO:0000269 PubMed:18570303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007027 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R747W; In PARK14. VAR_062531 Y Y ECO:0000269 PubMed:18570303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007029 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant V310E; In NBIA2A. VAR_029371 Y Y ECO:0000269 PubMed:16783378 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007031 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-2;Isoform SH-iPLA2;Position 396-450:LVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE->Q;In isoform SH-iPLA2. VSP_000278 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007033 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-3;Isoform Ankyrin-iPLA2-1;Position 477-479:HDH->CRT;In isoform Ankyrin-iPLA2-1. VSP_000281 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007034 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-3;Isoform Ankyrin-iPLA2-1;Position 480-806:Missing;In isoform Ankyrin-iPLA2-1. VSP_000282 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007035 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 450-499:ELQDLMHISRARKPAFILGSMRDEKRTHDHLLCLDGGGVKGLIIIQLLIA->GSHPSQAGWWAWGAVSDGTTGSHAHLTGPEASVHPGLHEGREADMQNLSP;In isoform Ankyrin-iPLA2-2. VSP_000279 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007036 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 500-806:Missing;In isoform Ankyrin-iPLA2-2. VSP_000280 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007037 Faith O60733 8398 PLA2G6 Homo sapiens 9606 Feature/splice variant O60733-4;Isoform Ankyrin-iPLA2-2;Position 71-142:Missing;In isoform Ankyrin-iPLA2-2. VSP_000277 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 128 3300007038 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant G821R; In dbSNP:rs10201128. VAR_039795 rs10201128 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007039 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant M708V; In dbSNP:rs11681826. VAR_039794 rs11681826 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007040 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant A1318V; In dbSNP:rs2199619. VAR_039797 rs2199619 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007041 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant A987V; In dbSNP:rs34289907. VAR_061358 rs34289907 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007042 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant V212L; In dbSNP:rs6753929. VAR_039793 rs6753929 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007043 Faith Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/sequence variant H879D; In dbSNP:rs7601771. VAR_039796 rs7601771 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007044 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 1-312:Missing;In isoform 2. VSP_032226 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007045 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 774-800:SAGGDGSLENVTTLPNILREFNRNLTG->RESKPGFLSDSWVSKSNRKCTRKAPNP;In isoform 2. VSP_032231 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007046 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-2;Isoform 2;Position 801-1458:Missing;In isoform 2. VSP_032232 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007047 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-3;Isoform 3;Position 184:Q->QQAPSLSTVLLS;In isoform 3. VSP_032227 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007048 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-3;Isoform 3;Position 523-544:Missing;In isoform 3. VSP_032228 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007049 Rose Q6P1J6 151056 PLB1 Homo sapiens 9606 Feature/splice variant Q6P1J6-5;Isoform 5;Position 1-1035:Missing;In isoform 5. VSP_032225 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 11/28/2012 77 3300007050 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/mutagenesis site S47A; Reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes. Y Y ECO:0000269 PubMed:16150821 PubMed:16239926 UniProtKB UPDATE ver_2 Changes in: EVID AAP 6/26/2013 87 3300007053 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant P195L; In NLSDM. VAR_032995 Y Y ECO:0000269 PubMed:17187067 UniProtKB UPDATE ver_2 Changes in: EVID AAP 6/26/2013 87 3300007054 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant L219F; VAR_032996 Y Y ECO:0000269 PubMed:16644682 UniProtKB UPDATE ver_2 Changes in: EVID AAP 6/26/2013 87 3300007055 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant N252K; In dbSNP:rs140201358. VAR_032997 rs140201358 Y Y ECO:0000269 PubMed:16644682 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP 6/26/2013 87 3300007056 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant L481P; In dbSNP:rs1138693. VAR_032998 rs1138693 Y Y ECO:0000269 PubMed:15489334 PubMed:16644682 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 6/26/2013 87 3300007057 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant R7C; In dbSNP:rs41311442. VAR_033482 rs41311442 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 116 3300007059 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant G198E; In dbSNP:rs41312444. VAR_054975 rs41312444 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 116 3300007060 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant E301A; In dbSNP:rs41312504. VAR_033483 rs41312504 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 116 3300007061 Faith Q13258 5729 PTGDR Homo sapiens 9606 Feature/sequence variant R332Q; In dbSNP:rs41312506. VAR_054976 rs41312506 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 116 3300007062 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site D330A; 45% increases internalization of PTGDR2. Y Y ECO:0000269 PubMed:20035740 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007063 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site E332A; 45% increases internalization of PTGDR2. Y Y ECO:0000269 PubMed:20035740 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007064 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site L333A; 45% increase in internalization of PTGDR2. Y Y ECO:0000269 PubMed:20035740 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007065 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site S331A; 45% increases internalization of PTGDR2. Y Y ECO:0000269 PubMed:20035740 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007066 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site T347A; Decreases in PKC-induced internalization of PTGDR2. Y Y ECO:0000269 PubMed:20035740 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007067 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/sequence variant V204A; In dbSNP:rs2467642. VAR_063131 rs2467642 Y Y ECO:0000269 PubMed:10036181 PubMed:15489334 PubMed:9973380 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 102 3300007068 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site C65A; Loss of enzyme activity. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007069 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site F83A; Reduces enzyme activity about five-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007070 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site K59A; Increases enzyme activity about two-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007071 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site L131A; Reduces enzyme activity almost ten-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007072 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site L79A; Reduces enzyme activity over ten-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007073 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site M64A; Reduces enzyme activity almost ten-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007074 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site Y149A; Increases enzyme activity about two-fold. Y Y ECO:0000269 PubMed:20667974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007075 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/sequence variant R56Q; In dbSNP:rs11552179. VAR_004273 rs11552179 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 132 3300007076 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant A71T; In dbSNP:rs1057362. VAR_017190 rs1057362 Y Y ECO:0000269 PubMed:8253813 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 112 3300007077 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant T223M; In dbSNP:rs28364042. VAR_029216 rs28364042 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 112 3300007078 Rose P34995 5731 PTGER1 Homo sapiens 9606 Feature/sequence variant H256R; In dbSNP:rs7249305. VAR_029217 rs7249305 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 112 3300007079 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant N366S; In dbSNP:rs13306014. VAR_029218 rs13306014 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007080 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant T319M; In dbSNP:rs13306020. VAR_049436 rs13306020 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007081 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant M169L; In dbSNP:rs5670. VAR_014694 rs5670 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007082 Rose P43115 5733 PTGER3 Homo sapiens 9606 Feature/sequence variant P375L; In dbSNP:rs5694. VAR_014695 rs5694 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007083 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-2;Isoform EP3C;EP3-II;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEA;In isoform EP3C. VSP_001935 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007084 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-3;Isoform EP3B;EP3-III;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->EEFWGN;In isoform EP3B. VSP_001936 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007085 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-4;Isoform EP3D;EP3-IV;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQEEFWGN;In isoform EP3D. VSP_001937 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007086 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-6;Isoform EP3F;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQAPLLPTPTVIDPSRFCAQPFRWFLDLSFPAMSSSHPQLPLTLASFKLLREPCSVQLS;In isoform EP3F. VSP_001939 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007088 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-7;Isoform EP3G;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->EMGPDGRCFCHAWRQVPRTWCSSHDREPCSVQLS;In isoform EP3G. VSP_013271 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 131 3300007089 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site E66A; Reduces enzyme activity by 50%. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007090 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site H72A; Reduces enzyme activity by 70%. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007091 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R110{AS}; Loss of enzyme activity. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007092 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R67A; Loss of enzyme activity. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007093 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site R70A; Slightly reduced enzyme activity. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007094 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site Y117A; Loss of enzyme activity. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007095 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site Y117F; No effect on enzyme activity. Y Y ECO:0000269 PubMed:18682561 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA 2/6/2013 100 3300007096 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C110S; Loss of function. Y Y ECO:0000269 PubMed:12804604 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 110 3300007097 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/sequence variant R298H; In dbSNP:rs13283456. VAR_049494 rs13283456 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 110 3300007099 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C308S; Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-311. Y Y ECO:0000269 PubMed:12488443 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007112 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C309S; No effect on palmitoylation level. Y Y ECO:0000269 PubMed:12488443 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007113 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C311S; Reduced palmitoylation, coupling to G protein unaffected. Abolished palmitoylation and coupling to G protein; when associated with S-308. Y Y ECO:0000269 PubMed:12488443 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007114 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C383S; Abolishes isoprenylation. Y Y ECO:0000269 PubMed:11895442 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007115 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/sequence variant V25M; In dbSNP:rs2229127. VAR_024260 rs2229127 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007116 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/sequence variant S319W; In dbSNP:rs28590598. VAR_061226 rs28590598 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007117 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant P500S; In dbSNP:rs5584. VAR_014637 rs5584 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007118 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant R379S; In allele CYP8A1*4; dbSNP:rs56195291. VAR_010917 rs56195291 Y Y ECO:0000269 PubMed:11281454 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007119 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant S118R; In allele CYP8A1*3; dbSNP:rs5622. VAR_010916 rs5622 Y Y ECO:0000269 PubMed:11281454 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007120 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant E154A; In dbSNP:rs5623. VAR_014634 rs5623 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007121 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant F171L; In dbSNP:rs5624. VAR_014635 rs5624 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007122 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant R236C; In dbSNP:rs5626. VAR_014636 rs5626 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007123 Faith Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant P38L; In allele CYP8A1*2. VAR_010915 Y Y ECO:0000269 PubMed:11281454 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 129 3300007124 Katie Q14914 22949 PTGR1 Homo sapiens 9606 Feature/sequence variant A27S; In dbSNP:rs1053959. VAR_023111 rs1053959 Y Y ECO:0000269 PubMed:14702039 PubMed:15489334 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 1/9/2013 125 3300007125 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/mutagenesis site S529N; Abolishes cyclooxygenase activity. Y Y ECO:0000269 PubMed:1907252 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007127 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant R149L; In dbSNP:rs10306140. VAR_019162 rs10306140 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007128 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant W8R; In dbSNP:rs1236913. VAR_013451 rs1236913 Y Y ECO:0000269 PubMed:12192304 PubMed:14702039 PubMed:15489334 PubMed:1587858 PubMed:1734857 PubMed:1907252 PubMed:2512924 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007129 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant P17L; In dbSNP:rs3842787. VAR_013452 rs3842787 Y Y ECO:0000269 PubMed:12192304 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007130 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant R53H; In dbSNP:rs3842789. VAR_019161 rs3842789 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007131 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K185T; In dbSNP:rs3842792. VAR_056663 rs3842792 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007132 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K341R; In dbSNP:rs3842799. VAR_056664 rs3842799 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007133 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant L237M; In dbSNP:rs5789. VAR_019163 rs5789 Y Y ECO:0000269 PubMed:15308583 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007134 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant K359R; In dbSNP:rs5791. VAR_013453 rs5791 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007135 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant I443V; In dbSNP:rs5792. VAR_013454 rs5792 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007136 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/sequence variant V481I; In dbSNP:rs5794. VAR_028017 rs5794 Y Y ECO:0000269 PubMed:15308583 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 151 3300007137 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C526S; Prevents activation by nitric oxid (NO). Y Y ECO:0000269 PubMed:16373578 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007139 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C555S; Abolishes enzyme activity. Y Y ECO:0000269 PubMed:16373578 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007140 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C561S; Does not affect activation by nitric oxid (NO). Y Y ECO:0000269 PubMed:16373578 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007141 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant R228H; In dbSNP:rs3218622. VAR_016262 rs3218622 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007142 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant G587R; In dbSNP:rs3218625. VAR_016264 rs3218625 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007143 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant P428A; In dbSNP:rs4648279. VAR_016263 rs4648279 Y Y ECO:0000269 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007144 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant E488G; In dbSNP:rs5272. VAR_011980 rs5272 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007145 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/sequence variant V511A; In dbSNP:rs5273. VAR_011981 rs5273 Y Y ECO:0000269 PubMed:15308583 submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M, ASD 2/6/2013 143 3300007146 Mike O14975 11001 SLC27A2 Homo sapiens 9606 Feature/sequence variant K48Q; In dbSNP:rs1648348. VAR_046533 rs1648348 Y Y ECO:0000269 PubMed:10198260 PubMed:14702039 submission: submission: UniProtKB UPDATE ver_2 Changes in: EVID AAP 2/6/2013 106 3300007147 Rose P35610 6646 SOAT1 Homo sapiens 9606 Feature/sequence variant Q526R; In dbSNP:rs13306731. VAR_052031 rs13306731 Y Y ECO:0000269 PubMed:8407899 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300007149 Faith P35610 6646 SOAT1 Homo sapiens 9606 Feature/splice variant P35610-2;Isoform 2;Position 1-59:MVGEEKMSLRNRLSKSRENPEEDEDQRNPAKESLETPSNGRIDIKQLIAKKIKLTAEAE->M;In isoform 2. VSP_045331 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300007150 Faith P35610 6646 SOAT1 Homo sapiens 9606 Feature/splice variant P35610-3;Isoform 3;Position 1-65:Missing;In isoform 3. VSP_045330 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 2/6/2013 124 3300007151 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site L291R; Suppresses antagonist binding. Y Y ECO:0000269 PubMed:8246916 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 138 3300007192 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site R295Q; Reduces antagonist binding. Y Y ECO:0000269 PubMed:8246916 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 138 3300007193 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299L; Reduces antagonist binding. Y Y ECO:0000269 PubMed:8246916 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 138 3300007194 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299R; Reduces antagonist binding. Y Y ECO:0000269 PubMed:8246916 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 1/9/2013 138 3300007195 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant R60L; In BDPLT13; does not affect TXA2 binding; defective interaction with G proteins; impairs phospholipase C and adenylyl cyclase activation; isoform 1; has no effect on adenylyl cyclase inhibition; isoform 2; dbSNP:rs34377097. VAR_003515 rs34377097 Y Y ECO:0000269 PubMed:7929844 PubMed:8613548 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007196 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant C68S; In dbSNP:rs5743. VAR_014688 rs5743 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007197 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V80E; In dbSNP:rs5744. VAR_014689 rs5744 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007198 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant E94V; In dbSNP:rs5746. VAR_014690 rs5746 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007199 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant A160T; In dbSNP:rs5749. VAR_014691 rs5749 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007200 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V176E; In dbSNP:rs5750. VAR_014692 rs5750 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007201 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/sequence variant V217I; In dbSNP:rs5751. VAR_014693 rs5751 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007202 Faith P21731 6915 TBXA2R Homo sapiens 9606 Feature/splice variant P21731-2;Isoform 2;Beta;Position 329-343:SLSLQPQLTQRSGLQ->RSLTLWPSLEYSGTISAHCNLRLPGSSDSRASASRAAGITGVSHCARPCMLFDPEFDLLAGVQLLPFEPPTGKALSRKD;In isoform 2. VSP_001925 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 1/9/2013 138 3300007203 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L512P; In dbSNP:rs13306050. VAR_044391 rs13306050 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007204 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L70P; In dbSNP:rs13306050. VAR_058465 rs13306050 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007205 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant P511L; In dbSNP:rs13306050. VAR_055566 rs13306050 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007206 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E387K; In dbSNP:rs3735354. VAR_055565 rs3735354 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007207 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E388K; In dbSNP:rs3735354. VAR_018379 rs3735354 Y Y ECO:0000269 PubMed:12721789 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007208 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant A429T; In dbSNP:rs4526. VAR_014161 rs4526 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007209 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant Q416E; In allele CYP5A1*6; dbSNP:rs4528. VAR_010922 rs4528 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007210 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L356V; In allele CYP5A1*5; dbSNP:rs4529. VAR_010921 rs4529 Y Y ECO:0000269 PubMed:10391209 PubMed:10391210 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007211 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L357V; In dbSNP:rs4529. VAR_044387 rs4529 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007212 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L70V; In dbSNP:rs4529. VAR_058466 rs4529 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007213 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant G389V; In dbSNP:rs5760. VAR_016158 rs5760 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007214 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R424C; In dbSNP:rs5762. VAR_014160 rs5762 Y Y ECO:0000269 PubMed:10391210 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007215 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant T450N; In allele CYP5A1*8; dbSNP:rs5763. VAR_010924 rs5763 Y Y ECO:0000269 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007216 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant D160E; In allele CYP5A1*3; dbSNP:rs5768. VAR_010919 rs5768 Y Y ECO:0000269 PubMed:10391210 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007217 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant K257E; In dbSNP:rs5769. VAR_014647 rs5769 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007218 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R260G; In dbSNP:rs5770. VAR_014648 rs5770 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007219 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant Q316K; In dbSNP:rs5771. VAR_014649 rs5771 Y Y ECO:0000311 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007220 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L162I; In dbSNP:rs6137. VAR_014158 rs6137 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007221 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R60H; In allele CYP5A1*2; dbSNP:rs6138. VAR_014157 rs6138 Y Y ECO:0000269 PubMed:10391209 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007222 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant I331T; In dbSNP:rs6140. VAR_014159 rs6140 Y Y ECO:0000269 PubMed:10391209 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007223 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant E449K; In allele CYP5A1*7. VAR_010923 Y Y ECO:0000269 PubMed:11465543 PubMed:12721789 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007224 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant G481W; In GHDD. VAR_044389 Y Y ECO:0000269 PubMed:18264100 UniProtKB UPDATE ver_2 Changes in: EVID HDO term more general than OMIM. AAP, DGA, ASD 2/6/2013 147 3300007225 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L487P; In GHDD. VAR_044390 Y Y ECO:0000269 PubMed:18264100 UniProtKB UPDATE ver_2 Changes in: EVID HDO term more general than OMIM. AAP, DGA, ASD 2/6/2013 147 3300007227 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L82P; In GHDD. VAR_044386 Y Y ECO:0000269 PubMed:18264100 UniProtKB UPDATE ver_2 Changes in: EVID HDO term more general than OMIM. AAP, DGA, ASD 2/6/2013 147 3300007229 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant N245S; In allele CYP5A1*4. VAR_010920 Y Y ECO:0000269 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007231 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R412Q; In GHDD. VAR_044388 Y Y ECO:0000269 PubMed:18264100 UniProtKB UPDATE ver_2 Changes in: EVID HDO term more general than OMIM. AAP, DGA, ASD 2/6/2013 147 3300007232 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R465Q; In allele CYP5A1*9. VAR_010925 Y Y ECO:0000269 PubMed:11465543 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007234 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R501Q; VAR_018380 Y Y ECO:0000269 PubMed:12721789 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007235 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R85W; In a breast cancer sample; somatic mutation. VAR_036294 Y Y ECO:0000269 PubMed:16959974 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007236 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant V124I; VAR_018378 Y Y ECO:0000269 PubMed:12721789 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, ASD 2/6/2013 147 3300007238 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/sequence variant Q172L; In dbSNP:rs17354444. VAR_048215 rs17354444 Y Y UniProtKB AAP, ASD 9/3/2014 155 3300033027 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site E127D; 30-fold decrease in k(cat)/K(m) value for progesterone reduction; no effect on the K(m) value. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033028 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site H222I; Marked decrease in k(cat)/K(m) value for progesterone; 24-fold decrease for progesterone reduction; 18-fold decrease for 20alpha-OHProg oxidation. 95-fold decrease in K(m) value for NADPH. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033029 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site H222S; Marked decrease in k(cat)/K(m) value for progesterone; 10-fold decrease for progesterone reduction; 3-fold decrease for 20alpha-OHProg oxidation. 10-fold decrease in K(m) value for NADPH. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033030 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site R304L; 70-fold decrease in progesterone reduction. No effect on DHT reduction. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033031 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site Y305F; No effect on progesterone reduction. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033032 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site T307V; No effect on progesterone reduction. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033033 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/mutagenesis site D309V; No effect on progesterone reduction. Y Y ECO:0000269 PubMed:12899831 UniProtKB AAP, ASD 9/3/2014 155 3300033034 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant Y39F; In dbSNP:rs927344. VAR_047152 rs927344 Y Y ECO:0000269 PubMed:10464142 PubMed:22290738 PubMed:8797578 submission: PubMed:8662992 submission: PubMed:15489334 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033035 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant M246L; In dbSNP:rs17222744. VAR_029113 rs17222744 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033036 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant S281N; In dbSNP:rs56131651. VAR_013324 rs56131651 Y Y ECO:0000269 PubMed:11477083 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033037 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant D333G; Decreased expression; altered subcellular localization; altered transporter activity; dbSNP:rs17222674. VAR_020226 rs17222674 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033038 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant R353H; Altered transporter activity; dbSNP:rs7080681. VAR_020227 rs7080681 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033039 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant V417I; In dbSNP:rs2273697. VAR_013325 rs2273697 Y Y ECO:0000269 PubMed:11266082 PubMed:11477083 PubMed:25336012 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, AAP-M, ASD 9/3/2014 146 3300033040 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant K495E; In dbSNP:rs17222561. VAR_029115 rs17222561 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033042 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant F562L; In dbSNP:rs17216233. VAR_029116 rs17216233 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033043 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant I670T; In dbSNP:rs17222632. VAR_020228 rs17222632 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033044 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant R768W; In DJS; dbSNP:rs56199535. VAR_000099 rs56199535 Y Y ECO:0000269 PubMed:10053008 PubMed:11266082 PubMed:25336012 PubMed:9425227 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, AAP-M, ASD 9/3/2014 146 3300033045 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant S789F; In dbSNP:rs56220353. VAR_013326 rs56220353 Y Y ECO:0000269 PubMed:11266082 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033046 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant L849R; In dbSNP:rs17222617. VAR_020229 rs17222617 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033047 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant I982V; In dbSNP:rs17222554. VAR_029117 rs17222554 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033049 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant I1036T; Polymorphism with no effect on transporter activity; dbSNP:rs45441199. VAR_020230 rs45441199 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033050 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant N1063S; In dbSNP:rs17222540. VAR_029118 rs17222540 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033051 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant R1150H; In DJS; protein is properly localized at the plasma membrane, but transporter activity is impaired. VAR_013327 Y Y ECO:0000269 PubMed:11477083 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033052 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant I1173F; In DJS; decreased expression and mislocation to the endoplasmic reticulum. VAR_013328 Y Y ECO:0000269 PubMed:11477083 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033053 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant R1174H; Decreased expression; altered subcellular localization; decreased transporter activity; dbSNP:rs139188247. VAR_070609 rs139188247 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033054 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant R1181L; Decreased expression; dbSNP:rs8187692. VAR_020231 rs8187692 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033055 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant V1188E; In dbSNP:rs17222723. VAR_020232 rs17222723 Y Y ECO:0000269 PubMed:22290738 submission: UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033056 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant N1244K; Decreased transporter activity. VAR_070610 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033057 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant T1273A; In dbSNP:rs8187699. VAR_024360 rs8187699 Y Y UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033058 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant P1291L; Altered transporter activity; dbSNP:rs17216317. VAR_020233 rs17216317 Y Y ECO:0000269 PubMed:22290738 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033059 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant Q1382R; In DJS. VAR_010756 Y Y ECO:0000269 PubMed:10053008 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033060 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant 1392-1393:Missing; In DJS; impaired transport from the endoplasmic reticulum to the apical plasma membrane associated with impaired maturation. VAR_013329 Y Y ECO:0000269 PubMed:10464142 PubMed:11093739 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, AAP-M, ASD 9/3/2014 146 3300033061 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant A1450T; In dbSNP:rs56296335. VAR_013330 rs56296335 Y Y ECO:0000269 PubMed:11266082 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033062 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant C1515Y; In dbSNP:rs8187710. VAR_020234 rs8187710 Y Y ECO:0000269 PubMed:22290738 submission: UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033063 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/mutagenesis site W1254{AC}; Fails to transport methotrexate, leukotriene C4 and estradiol glucuronide. Y Y ECO:0000269 PubMed:11500505 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033064 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/mutagenesis site W1254F; Fails to transport methotrexate and leukotriene C4. Does not affect estradiol glucuronide transport. Y Y ECO:0000269 PubMed:11500505 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033065 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/mutagenesis site W1254Y; Fails to transport methotrexate; reduces leukotriene C4 transport. Does not affect estradiol glucuronide transport. Y Y ECO:0000269 PubMed:11500505 UniProtKB AAP, AAP-M, ASD 9/3/2014 146 3300033066 curatus Q8N8N7 145482 PTGR2 Homo sapiens 9606 Feature/mutagenesis site Y64F; Increases affinity for 15-keto-PGE2. Reduces affinity for NADP and Vmax. Y Y ECO:0000269 PubMed:19000823 UniProtKB AAP, ASD 9/3/2014 105 3300033069 curatus Q8N8N7 145482 PTGR2 Homo sapiens 9606 Feature/mutagenesis site Y259F; Increases affinity for 15-keto-PGE2. Reduces affinity for NADP and Vmax. Y Y ECO:0000269 PubMed:19000823 UniProtKB AAP, ASD 9/3/2014 105 3300033070 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/splice variant O15438-2;Isoform 2;MRP3A;Position 1194-1527:WLSIGVEFVGNCVVLFAALFAVIGRSSLNPGLVGLSVSYSLQVTFALNWMIRMMSDLESNIVAVERVKEYSKTETEAPWVVEGSRPPEGWPPRGEVEFRNYSVRYRPGLDLVLRDLSLHVHGGEKVGIVGRTGAGKSSMTLCLFRILEAAKGEIRIDGLNVADIGLHDLRSQLTIIPQDPILFSGTLRMNLDPFGSYSEEDIWWALELSHLHTFVSSQPAGLDFQCSEGGENLSVGQRQLVCLARALLRKSRILVLDEATAAIDLETDNLIQATIRTQFDTCTVLTIAHRLNTIMDYTRVLVLDKGVVAEFDSPANLIAARGIFYGMARDAGLA->SEAASLAPCSSRNSQQALWCSGSLSLLSPKQKTGPALPLPHFLLI;In isoform 2. VSP_000042 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: NOTE,EVID AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033071 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/splice variant O15438-3;Isoform 3;MRP3B;Position 226-510:MAIYGYRHPLEEKDLWSLKEEDRSQMVVQQLLEAWRKQEKQTARHKASAAPGKNASGEDEVLLGARPRPRKPSFLKALLATFGSSFLISACFKLIQDLLSFINPQLLSILIRFISNPMAPSWWGFLVAGLMFLCSMMQSLILQHYYHYIFVTGVKFRTGIMGVIYRKALVITNSVKRASTVGEIVNLMSVDAQRFMDLAPFLNLLWSAPLQIILAIYFLWQNLGPSVLAGVAFMVLLIPLNGAVAVKMRAFQVKQMKLKDSRIKLMSEILNGIKVLKLYAWEPSF->LLNPDPLRGCLPGFTSPQDGHLWLPASPGGEGPLVPKGRGQIPDGGAAAAGGMEEAGKADGTTQGFSSTWEKCLRRGRGAAGCPAQAPEALLPEGPAGHLRLQLPHQCLLQAYPGPALLHQSTAAQHPDQVYLQPHGPLLVGLPGGWADVPVLHDAVADLTTLLPLHLCDWGEVSYWDHGCHLQEGSGYHQLSQTCVHCGGNCQPHVSGCPALHGPCPLPQSAVVSTPADHPGDLLPLAEPRSLCPGWSRFHGLADSTQRSCGREDARLPGKANEIEGLAHQADE;In isoform 3. VSP_000040 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: NOTE,EVID AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033072 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/splice variant O15438-3;Isoform 3;MRP3B;Position 511-1527:Missing;In isoform 3. VSP_000041 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: NOTE,EVID AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033073 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant G11D; In dbSNP:rs11568609. VAR_029119 rs11568609 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033077 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant S346F; In dbSNP:rs11568605. VAR_020235 rs11568605 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033078 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant R1286G; In dbSNP:rs11568593. VAR_029120 rs11568593 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033079 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant R1297H; In dbSNP:rs11568591. VAR_020237 rs11568591 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033080 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant Q1365R; In dbSNP:rs11568590. VAR_020239 rs11568590 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033081 curatus O15438 8714 ABCC3 Homo sapiens 9606 Feature/sequence variant R1381S; In dbSNP:rs45461799. VAR_020240 rs45461799 Y Y UniProtKB AAP, DGA, AAP-M, ASD 9/3/2014 139 3300033082 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant 60-62:Missing; In PXE; autosomal recessive. VAR_013363 Y Y ECO:0000269 PubMed:11702217 PubMed:16086317 PubMed:17617515 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 9/3/2014 156 3300033085 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G61D; VAR_013364 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033086 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R64W; VAR_013365 Y Y ECO:0000269 PubMed:9892204 PubMed:10493829 PubMed:11058917 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033087 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant 74:Missing; In PXE. VAR_067840 Y Y ECO:0000269 PubMed:15086542 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033088 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G129E; In PXE; autosomal recessive. VAR_067843 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033091 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A158V; VAR_067844 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033092 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G207R; VAR_013366 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033093 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R265G; In dbSNP:rs78629019. VAR_013367 rs78629019 Y Y ECO:0000269 PubMed:11536079 PubMed:11702217 PubMed:16086317 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033094 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant K281E; In dbSNP:rs4780606. VAR_013368 rs4780606 Y Y ECO:0000269 PubMed:11536079 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033095 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S317R; In PXE; autosomal recessive; dbSNP:rs78678589. VAR_067845 rs78678589 Y Y ECO:0000269 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033096 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant I319V; In dbSNP:rs72657699. VAR_013369 rs72657699 Y Y ECO:0000269 PubMed:11536079 PubMed:16086317 PubMed:21318057 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, DGA, ASD 9/3/2014 156 3300033097 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L355R; In GACI2 and PXE; autosomal recessive; dbSNP:rs72653758. VAR_067846 rs72653758 Y Y ECO:0000269 PubMed:16086317 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033098 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant 363-373:Missing; In PXE. VAR_067847 Y Y ECO:0000269 PubMed:15086542 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 9/3/2014 156 3300033099 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant T364R; In PXE; autosomal recessive. VAR_013370 Y Y ECO:0000269 PubMed:11702217 PubMed:15459974 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033100 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant N370D; In PXE; autosomal recessive; dbSNP:rs72653760. VAR_067848 rs72653760 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033101 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R382W; In PXE; dbSNP:rs72653761. VAR_067849 rs72653761 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033102 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R391G; In GACI2 and PXE; autosomal recessive; dbSNP:rs72653762. VAR_067850 rs72653762 Y Y ECO:0000269 PubMed:15086542 PubMed:16086317 PubMed:17617515 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033103 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant K392N; In PXE. VAR_067851 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033104 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S398G; In PXE; autosomal recessive; dbSNP:rs72653764. VAR_067852 rs72653764 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033105 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant N411K; In PXE; autosomal dominant; dbSNP:rs9930886. VAR_013371 rs9930886 Y Y ECO:0000269 PubMed:11536079 PubMed:15459974 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033106 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V417M; VAR_067853 Y Y ECO:0000269 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033107 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant C440G; In PXE; autosomal recessive; dbSNP:rs72653766. VAR_067854 rs72653766 Y Y ECO:0000269 PubMed:15459974 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033108 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A455P; In PXE; autosomal dominant; dbSNP:rs67996819. VAR_013372 rs67996819 Y Y ECO:0000269 PubMed:11427982 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033109 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L463H; In PXE; dbSNP:rs72653767. VAR_067855 rs72653767 Y Y ECO:0000269 UniProtKB UPDATE ver_2 Changes in: EVID1,EVID AAP, DGA, ASD 9/3/2014 156 3300033110 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L495H; In PXE; autosomal recessive; dbSNP:rs72653769. VAR_067856 rs72653769 Y Y ECO:0000269 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033111 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant N497K; In dbSNP:rs72653770. VAR_013373 rs72653770 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033112 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V514I; In dbSNP:rs59157279. VAR_067857 rs59157279 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033113 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R518Q; In PXE; autosomal recessive; dbSNP:rs72653772. VAR_013374 rs72653772 Y Y ECO:0000269 PubMed:11536079 PubMed:15459974 PubMed:15086542 PubMed:16086317 PubMed:17617515 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033114 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S535P; In PXE; dbSNP:rs72653773. VAR_067858 rs72653773 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033115 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant F551S; In PXE; autosomal recessive; dbSNP:rs72653774. VAR_067859 rs72653774 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033116 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant F568S; In PXE; autosomal dominant; dbSNP:rs66864704. VAR_013375 rs66864704 Y Y ECO:0000269 PubMed:11536079 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033117 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S590F; In GACI2. VAR_067860 Y Y ECO:0000269 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033118 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A594V; In PXE; autosomal recessive; dbSNP:rs72653776. VAR_067861 rs72653776 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033119 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R600C; In PXE; autosomal recessive; dbSNP:rs72653777. VAR_067862 rs72653777 Y Y ECO:0000269 PubMed:15459974 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033120 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V614A; In dbSNP:rs12931472. VAR_011490 rs12931472 Y Y ECO:0000269 PubMed:10835642 PubMed:11536079 PubMed:11776382 PubMed:15489334 PubMed:16086317 PubMed:19339160 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, DGA, ASD 9/3/2014 156 3300033121 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant H632Q; In dbSNP:rs8058694. VAR_013376 rs8058694 Y Y ECO:0000269 PubMed:10954200 PubMed:11536079 PubMed:11776382 PubMed:15489334 PubMed:16086317 PubMed:19339160 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, DGA, ASD 9/3/2014 156 3300033122 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G663C; In PXE; dbSNP:rs72653780. VAR_067863 rs72653780 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033123 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V665A; In dbSNP:rs4341770. VAR_055477 rs4341770 Y Y UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033124 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L673P; In PXE; autosomal dominant; dbSNP:rs67470842. VAR_013377 rs67470842 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033125 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L677P; In PXE; autosomal recessive; dbSNP:rs72653782. VAR_067864 rs72653782 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033126 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant Q698P; In PXE; dbSNP:rs72653783. VAR_067865 rs72653783 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033127 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant E699D; In PXE; dbSNP:rs72653784. VAR_067866 rs72653784 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033128 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R724K; In dbSNP:rs58073789. VAR_067867 rs58073789 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033129 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R724L; VAR_067868 Y Y ECO:0000269 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033130 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L726P; In PXE; dbSNP:rs72653785. VAR_067869 rs72653785 Y Y ECO:0000269 PubMed:17617515 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033131 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant I742V; In dbSNP:rs59593133. VAR_067870 rs59593133 Y Y ECO:0000269 PubMed:16086317 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033132 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant M751K; In PXE; dbSNP:rs72653786. VAR_067871 rs72653786 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033133 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G755R; In PXE; dbSNP:rs72653787. VAR_067872 rs72653787 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033134 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R760W; In PXE; autosomal recessive; dbSNP:rs72653788. VAR_067873 rs72653788 Y Y ECO:0000269 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033135 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R765Q; In PXE; autosomal dominant and autosomal recessive; dbSNP:rs67561842. VAR_013378 rs67561842 Y Y ECO:0000269 PubMed:11536079 PubMed:16086317 PubMed:17617515 PubMed:20034067 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033136 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A766D; In PXE; autosomal recessive; dbSNP:rs72653789. VAR_067874 rs72653789 Y Y ECO:0000269 PubMed:15086542 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033137 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant D777N; In PXE; dbSNP:rs72653790. VAR_067875 rs72653790 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033138 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R807Q; In PXE; autosomal recessive; dbSNP:rs72653794. VAR_067876 rs72653794 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033139 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R807W; In PXE; autosomal recessive; dbSNP:rs72653793. VAR_067877 rs72653793 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033140 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V810M; In PXE; autosomal recessive; dbSNP:rs72653795. VAR_067878 rs72653795 Y Y ECO:0000269 PubMed:15459974 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033141 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant T811M; In PXE; dbSNP:rs72653796. VAR_067879 rs72653796 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033142 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A820P; In PXE; autosomal recessive; dbSNP:rs72653797. VAR_067880 rs72653797 Y Y ECO:0000269 PubMed:15459974 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033143 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant M848V; In dbSNP:rs6416668. VAR_059108 rs6416668 Y Y ECO:0000269 PubMed:10424734 PubMed:10493829 PubMed:15489334 PubMed:19339160 PubMed:21318057 PubMed:9892204 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, DGA, ASD 9/3/2014 156 3300033144 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R881S; In PXE; dbSNP:rs72653800. VAR_067881 rs72653800 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033145 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant T944I; In PXE; dbSNP:rs72653801. VAR_067882 rs72653801 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033146 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L946I; In dbSNP:rs61340537. VAR_067883 rs61340537 Y Y ECO:0000269 PubMed:16086317 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033147 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A950T; In PXE; dbSNP:rs72657689. VAR_067884 rs72657689 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033148 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L953H; In dbSNP:rs72657700. VAR_013379 rs72657700 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033149 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G992R; In PXE; dbSNP:rs72657692. VAR_067885 rs72657692 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033150 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant 1036:Missing; In GACI2 and PXE; autosomal recessive. VAR_067886 Y Y ECO:0000269 PubMed:16086317 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033151 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant 1048:Missing; In PXE; autosomal recessive. VAR_067887 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033152 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant D1056E; In PXE; dbSNP:rs72657694. VAR_067888 rs72657694 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033153 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1064W; In dbSNP:rs41278174. VAR_067889 rs41278174 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033154 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L1097I; In dbSNP:rs60707953. VAR_060988 rs60707953 Y Y UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033155 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1114C; In GACI2 and PXE; autosomal recessive; dbSNP:rs63749794. VAR_067890 rs63749794 Y Y ECO:0000269 PubMed:15459974 PubMed:16086317 PubMed:17617515 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033156 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1114P; In PXE; autosomal recessive. VAR_011491 Y Y ECO:0000269 PubMed:10835642 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033157 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S1121L; In PXE. VAR_067891 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033158 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant S1121W; In PXE; autosomal dominant. VAR_013380 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033159 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant T1130M; In PXE; autosomal recessive; dbSNP:rs63750459. VAR_067892 rs63750459 Y Y ECO:0000269 PubMed:15459974 PubMed:15086542 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033160 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G1133A; In PXE; dbSNP:rs63750473. VAR_067893 rs63750473 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033161 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1138P; In PXE; autosomal dominant. VAR_013381 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033162 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1138Q; In PXE; autosomal recessive; dbSNP:rs60791294. VAR_011492 rs60791294 Y Y ECO:0000269 PubMed:10835642 PubMed:11536079 PubMed:15459974 PubMed:16086317 PubMed:17617515 PubMed:19339160 UniProtKB UPDATE ver_2 Changes in: EVID1 AAP, DGA, ASD 9/3/2014 156 3300033163 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1138W; In PXE; autosomal recessive; dbSNP:rs28939701. VAR_011493 rs28939701 Y Y ECO:0000269 PubMed:10811882 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033164 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A1139T; In PXE; dbSNP:rs63750146. VAR_067894 rs63750146 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033165 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1164Q; In PXE; autosomal recessive; dbSNP:rs63750457. VAR_067895 rs63750457 Y Y ECO:0000269 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033166 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G1203D; In PXE; autosomal dominant; dbSNP:rs63750607. VAR_013382 rs63750607 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033167 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1221C; In PXE; autosomal recessive; dbSNP:rs63751215. VAR_067896 rs63751215 Y Y ECO:0000269 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033168 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1221H; In GACI2; dbSNP:rs63751001. VAR_067897 rs63751001 Y Y ECO:0000269 PubMed:17617515 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033169 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L1226I; In PXE; dbSNP:rs63750125. VAR_067898 rs63750125 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033170 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1235W; In PXE; autosomal recessive; dbSNP:rs63750402. VAR_067899 rs63750402 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033171 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant D1238H; In PXE; pseudodominant; dbSNP:rs63749796. VAR_067900 rs63749796 Y Y ECO:0000269 PubMed:15086542 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033172 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant W1241C; In dbSNP:rs72657701. VAR_013383 rs72657701 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033173 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1268Q; Associated with lower plasma triglycerides and higher plasma HDL cholesterol; dbSNP:rs2238472. VAR_011494 rs2238472 Y Y ECO:0000269 PubMed:10811882 PubMed:11536079 PubMed:16086317 PubMed:11776382 PubMed:10913334 PubMed:18987736 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033174 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant V1298F; In PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. VAR_013384 Y Y ECO:0000269 PubMed:11880368 PubMed:11536079 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033175 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant T1301I; In PXE; autosomal dominant; dbSNP:rs63750494. VAR_013385 rs63750494 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033176 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G1302R; In PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport; dbSNP:rs63749856. VAR_013386 rs63749856 Y Y ECO:0000269 PubMed:11880368 PubMed:11536079 PubMed:16086317 PubMed:17617515 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033177 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A1303P; In PXE; autosomal dominant and autosomal recessive. VAR_013387 Y Y ECO:0000269 PubMed:11536079 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033178 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1314Q; In PXE; autosomal dominant and autosomal recessive. VAR_013388 Y Y ECO:0000269 PubMed:11536079 PubMed:16086317 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033179 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1314W; In GACI2 and PXE; autosomal recessive; dbSNP:rs63750759. VAR_011495 rs63750759 Y Y ECO:0000269 PubMed:10835642 PubMed:11536079 PubMed:17617515 PubMed:22209248 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033180 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G1321S; In PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport; dbSNP:rs63749823. VAR_013389 rs63749823 Y Y ECO:0000269 PubMed:11880368 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033181 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L1335P; In PXE; autosomal recessive. VAR_067901 Y Y ECO:0000269 PubMed:15086542 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033182 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L1335Q; In PXE; dbSNP:rs63750414. VAR_067902 rs63750414 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033183 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1339C; In PXE; autosomal recessive; dbSNP:rs28939702. VAR_013390 rs28939702 Y Y ECO:0000269 PubMed:10954200 PubMed:11536079 PubMed:15459974 PubMed:16086317 PubMed:17617515 PubMed:19339160 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033184 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1339H; In PXE; autosomal recessive; dbSNP:rs63750622. VAR_067904 rs63750622 Y Y ECO:0000269 PubMed:17617515 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033185 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1339L; In PXE; autosomal recessive. VAR_067903 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033186 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant P1346S; In PXE; autosomal recessive; dbSNP:rs63751112. VAR_067905 rs63751112 Y Y ECO:0000269 PubMed:15459974 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033187 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant Q1347H; In PXE; autosomal dominant; dbSNP:rs67720869. VAR_013391 rs67720869 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033188 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant G1354R; In PXE; autosomal recessive; dbSNP:rs63750018. VAR_013392 rs63750018 Y Y ECO:0000269 PubMed:11702217 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033189 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1357W; In PXE; autosomal recessive; dbSNP:rs63750428. VAR_067906 rs63750428 Y Y ECO:0000269 PubMed:16086317 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033190 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant D1361N; In PXE; autosomal dominant; dbSNP:rs58695352. VAR_013393 rs58695352 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033191 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant E1400K; In PXE; autosomal recessive; dbSNP:rs63751241. VAR_067907 rs63751241 Y Y ECO:0000269 PubMed:15459974 PubMed:15086542 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033192 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant Q1406K; In PXE; autosomal recessive. VAR_067908 Y Y ECO:0000269 PubMed:20034067 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033193 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant I1424T; In PXE; autosomal dominant; dbSNP:rs63750295. VAR_013394 rs63750295 Y Y ECO:0000269 PubMed:11536079 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033194 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R1459C; In PXE; putative autosomal dominant; dbSNP:rs72547524. VAR_067909 rs72547524 Y Y ECO:0000269 PubMed:15098239 UniProtKB AAP, DGA, ASD 9/3/2014 156 3300033195 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Feature/splice variant Q5T3U5-2;Isoform 2;Mrp7A;Position 1-43:Missing;In isoform 2. VSP_021078 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 94 3300033196 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Feature/splice variant Q5T3U5-2;Isoform 2;Mrp7A;Position 44-52:VLSACYLGT->MCLLVFPLV;In isoform 2. VSP_021079 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 94 3300033197 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Feature/splice variant Q5T3U5-2;Isoform 2;Mrp7A;Position 588:P->PDCGRLGAQIKWLLCS;In isoform 2. VSP_021080 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 94 3300033198 curatus Q5T3U5 89845 ABCC10 Homo sapiens 9606 Feature/sequence variant I948T; In dbSNP:rs2125739. VAR_028391 rs2125739 Y Y UniProtKB AAP, ASD 9/3/2014 94 3300033199 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/splice variant Q96J66-2;Isoform 2;Isoform A;Position 1261-1298:Missing;In isoform 2. VSP_017351 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, DGA, AAP-M 9/3/2014 104 3300033200 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant R19H; In dbSNP:rs16945988. VAR_025437 rs16945988 Y Y UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033201 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant G180R; In dry earwax phenotype; reduced transport activity; dbSNP:rs17822931. VAR_025438 rs17822931 Y Y ECO:0000269 PubMed:16444273 UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033202 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant A317E; In dbSNP:rs11863236. VAR_048144 rs11863236 Y Y ECO:0000269 PubMed:11591886 UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033203 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant T546M; In dbSNP:rs17822471. VAR_048145 rs17822471 Y Y UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033204 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant V648I; In dbSNP:rs16945930. VAR_048146 rs16945930 Y Y UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033205 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant V687I; In dbSNP:rs16945928. VAR_048147 rs16945928 Y Y UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033206 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant K735R; In dbSNP:rs16945926. VAR_048148 rs16945926 Y Y UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033207 curatus Q96J66 85320 ABCC11 Homo sapiens 9606 Feature/sequence variant H1344R; In dbSNP:rs16945916. VAR_048149 rs16945916 Y Y ECO:0000269 PubMed:11591886 UniProtKB AAP, DGA, AAP-M 9/3/2014 104 3300033208 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant F46Y; In dbSNP:rs2854482. VAR_048216 rs2854482 Y Y ECO:0000269 PubMed:7959017 UniProtKB AAP, ASD 9/3/2014 148 3300033211 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant I79V; In SRXY8; partially impaired activity. VAR_066632 Y Y ECO:0000269 PubMed:21802064 UniProtKB AAP, ASD 9/3/2014 148 3300033212 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant H90Q; In SRXY8; partially impaired activity. VAR_066633 Y Y ECO:0000269 PubMed:21802064 UniProtKB AAP, ASD 9/3/2014 148 3300033213 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant L172Q; In dbSNP:rs11474. VAR_014748 rs11474 Y Y UniProtKB AAP, ASD 9/3/2014 148 3300033214 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant H222Q; In SRXY8; partially impaired activity. VAR_066634 Y Y ECO:0000269 PubMed:21802064 UniProtKB AAP, ASD 9/3/2014 148 3300033215 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/sequence variant N300T; In SRXY8; partially impaired activity. VAR_066635 Y Y ECO:0000269 PubMed:21802064 UniProtKB AAP, ASD 9/3/2014 148 3300033216 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/mutagenesis site Y24A; Strongly decreases affinity for androstenedione. Decreases androstenedione reductase activity about 60-fold. Y Y ECO:0000269 PubMed:17442338 UniProtKB AAP, ASD 9/3/2014 148 3300033217 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/mutagenesis site K31{AM}; Increases the low androstenedione reductase activity. Y Y ECO:0000269 PubMed:17442338 UniProtKB AAP, ASD 9/3/2014 148 3300033218 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/mutagenesis site R301A; Decreases 3-alpha-hydroxysteroid reductase activity about 50-fold. Y Y ECO:0000269 PubMed:15929998 UniProtKB AAP, ASD 9/3/2014 148 3300033219 curatus P52895 1646 AKR1C2 Homo sapiens 9606 Feature/mutagenesis site R304A; Decreases 3-alpha-hydroxysteroid reductase activity about 500-fold. Y Y ECO:0000269 PubMed:15929998 UniProtKB AAP, ASD 9/3/2014 148 3300033220 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/splice variant Q15067-2;Isoform 2;SCOX-exon 3II;Position 90-131:KLHLVNFVEPVGLNYSMFIPTLLNQGTTAQKEKWLLSSKGLQ->NFVHRGRPEPLDLHLGMFLPTLLHQATAEQQERFFMPAWNLE;In isoform 2 and isoform 3. VSP_000146 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 152 3300033221 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant 64:Missing; In pseudo-NALD. VAR_067040 Y Y ECO:0000269 PubMed:17458872 UniProtKB AAP, ASD 9/3/2014 152 3300033224 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant G101S; In dbSNP:rs3744032. VAR_048182 rs3744032 Y Y UniProtKB AAP, ASD 9/3/2014 152 3300033225 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant T153I; In dbSNP:rs17855420. VAR_030619 rs17855420 Y Y ECO:0000269 PubMed:15489334 UniProtKB AAP, ASD 9/3/2014 152 3300033226 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant G178C; In pseudo-NALD. VAR_025789 Y Y ECO:0000269 PubMed:17458872 PubMed:11815777 UniProtKB AAP, ASD 9/3/2014 152 3300033227 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant S184L; In pseudo-NALD. VAR_067041 Y Y ECO:0000269 PubMed:17458872 UniProtKB AAP, ASD 9/3/2014 152 3300033228 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant G231V; In pseudo-NALD. VAR_067042 Y Y ECO:0000269 PubMed:17458872 UniProtKB AAP, ASD 9/3/2014 152 3300033229 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant M278V; In pseudo-NALD. VAR_025790 Y Y ECO:0000269 PubMed:17458872 PubMed:11815777 UniProtKB AAP, ASD 9/3/2014 152 3300033230 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant Q309R; In pseudo-NALD. VAR_067043 Y Y ECO:0000269 PubMed:17458872 UniProtKB AAP, ASD 9/3/2014 152 3300033231 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant S310P; In pseudo-NALD. VAR_067044 Y Y ECO:0000269 PubMed:17458872 UniProtKB AAP, ASD 9/3/2014 152 3300033232 curatus Q15067 51 ACOX1 Homo sapiens 9606 Feature/sequence variant I312M; In dbSNP:rs1135640. VAR_021529 rs1135640 Y Y ECO:0000269 PubMed:15489334 PubMed:8040306 PubMed:8117268 PubMed:14702039 PubMed:17974005 UniProtKB AAP, ASD 9/3/2014 152 3300033233 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/splice variant P13584-2;Isoform 2;Position 206:H->HS;In isoform 2. VSP_038419 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 140 3300033236 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant A111V; In dbSNP:rs45559437. VAR_055377 rs45559437 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033237 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R173W; In allele CYP4B1*3 and allele CYP4B1*6; dbSNP:rs4646487. VAR_018357 rs4646487 Y Y ECO:0000269 submission: PubMed:12142726 UniProtKB AAP, ASD 9/3/2014 140 3300033238 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R264W; In dbSNP:rs45446505. VAR_048453 rs45446505 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033239 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R274Q; In dbSNP:rs45578838. VAR_055378 rs45578838 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033240 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant S322G; In allele CYP4B1*4; dbSNP:rs45467195. VAR_018358 rs45467195 Y Y ECO:0000269 submission: PubMed:12142726 UniProtKB AAP, ASD 9/3/2014 140 3300033241 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant Y329S; In dbSNP:rs12094024. VAR_048454 rs12094024 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033242 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant M331I; In allele CYP4B1*2, allele CYP4B1*7 and allele CYP4B1*5; dbSNP:rs2297810. VAR_018359 rs2297810 Y Y ECO:0000269 submission: PubMed:12142726 UniProtKB AAP, ASD 9/3/2014 140 3300033243 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R340C; In allele CYP4B1*2 and allele CYP4B1*7; dbSNP:rs4646491. VAR_018360 rs4646491 Y Y ECO:0000269 submission: PubMed:12142726 UniProtKB AAP, ASD 9/3/2014 140 3300033244 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant V345I; In allele CYP4B1*6. VAR_018361 Y Y UniProtKB AAP, ASD 9/3/2014 140 3300033245 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant F354C; In dbSNP:rs17102592. VAR_048455 rs17102592 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033246 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R375C; In allele CYP4B1*2; dbSNP:rs2297809. VAR_018362 rs2297809 Y Y ECO:0000269 submission: PubMed:12142726 UniProtKB AAP, ASD 9/3/2014 140 3300033247 curatus P13584 1580 CYP4B1 Homo sapiens 9606 Feature/sequence variant R482Q; In dbSNP:rs45622937. VAR_048456 rs45622937 Y Y ECO:0000269 submission: UniProtKB AAP, ASD 9/3/2014 140 3300033248 curatus Q9UNU6 1582 CYP8B1 Homo sapiens 9606 Feature/sequence variant S88P; In dbSNP:rs9865715. VAR_055102 rs9865715 Y Y ECO:0000269 PubMed:10051404 PubMed:14702039 PubMed:15489334 UniProtKB AAP 9/3/2014 116 3300033249 curatus Q9UNU6 1582 CYP8B1 Homo sapiens 9606 Feature/sequence variant R234H; VAR_010381 Y Y ECO:0000269 PubMed:10051404 UniProtKB AAP 9/3/2014 116 3300033250 curatus Q9UNU6 1582 CYP8B1 Homo sapiens 9606 Feature/sequence variant K238R; In dbSNP:rs35764459. VAR_055103 rs35764459 Y Y UniProtKB AAP 9/3/2014 116 3300033251 curatus Q9UNU6 1582 CYP8B1 Homo sapiens 9606 Feature/sequence variant L357F; In dbSNP:rs35637877. VAR_055104 rs35637877 Y Y UniProtKB AAP 9/3/2014 116 3300033252 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant P13L; In dbSNP:rs16995376. VAR_013244 rs16995376 Y Y ECO:0000269 PubMed:11162645 UniProtKB AAP 9/3/2014 121 3300033255 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant T16M; In dbSNP:rs16995378. VAR_048459 rs16995378 Y Y ECO:0000269 PubMed:11162607 PubMed:11162645 PubMed:12975309 PubMed:16303743 PubMed:17974005 submission: UniProtKB UPDATE ver_2 Changes in: EVID1 AAP 9/3/2014 121 3300033256 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant N76D; In dbSNP:rs609636. VAR_013245 rs609636 Y Y ECO:0000269 PubMed:11162607 PubMed:11162645 PubMed:12975309 PubMed:16303743 PubMed:17974005 submission: UniProtKB UPDATE ver_2 Changes in: EVID1 AAP 9/3/2014 121 3300033257 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant I90V; In dbSNP:rs609290. VAR_013246 rs609290 Y Y ECO:0000269 PubMed:11162607 PubMed:11162645 PubMed:12975309 submission: UniProtKB UPDATE ver_2 Changes in: EVID1 AAP 9/3/2014 121 3300033258 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant C188R; In dbSNP:rs2285888. VAR_013247 rs2285888 Y Y ECO:0000269 PubMed:11162607 PubMed:11162645 PubMed:12975309 submission: UniProtKB UPDATE ver_2 Changes in: EVID1 AAP 9/3/2014 121 3300033259 curatus Q9HCS2 66002 CYP4F12 Homo sapiens 9606 Feature/sequence variant S522G; In dbSNP:rs593818. VAR_048460 rs593818 Y Y ECO:0000269 PubMed:11162607 PubMed:11162645 PubMed:12975309 submission: UniProtKB UPDATE ver_2 Changes in: EVID1 AAP 9/3/2014 121 3300033260 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/sequence variant N52S; Reduced activity towards daunorubicin; dbSNP:rs2229540. VAR_048212 rs2229540 Y Y ECO:0000269 PubMed:18276838 UniProtKB AAP, ASD 7/9/2014 155 3300033261 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/sequence variant E55D; Reduced activity towards daunorubicin; dbSNP:rs6690497. VAR_058909 rs6690497 Y Y ECO:0000269 PubMed:18276838 UniProtKB AAP, ASD 7/9/2014 155 3300033262 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site Y50F; Complete loss of enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033263 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site Y50H; Complete loss of enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033264 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site K80M; Complete loss of enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033265 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site H113Q; Strong decrease in enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033266 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site I299A; No change in enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033267 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site I299C; No change in enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033268 curatus P14550 10327 AKR1A1 Homo sapiens 9606 Feature/mutagenesis site V300C; No change in enzymatic activity. Y Y ECO:0000269 PubMed:7669785 UniProtKB AAP, ASD 7/9/2014 155 3300033269 curatus Q8NCG7 221955 DAGLB Homo sapiens 9606 Feature/sequence variant Q664R; In dbSNP:rs2303361. VAR_027275 rs2303361 Y Y ECO:0000269 PubMed:14702039 PubMed:15489334 UniProtKB AAP, ASD 9/3/2014 94 3300033274 curatus Q8NCG7 221955 DAGLB Homo sapiens 9606 Feature/mutagenesis site S443A; Loss of activity. Y Y ECO:0000269 PubMed:14610053 UniProtKB AAP, ASD 9/3/2014 94 3300033275 curatus Q8NCG7 221955 DAGLB Homo sapiens 9606 Feature/mutagenesis site D495A; Loss of activity. Y Y ECO:0000269 PubMed:14610053 UniProtKB AAP, ASD 9/3/2014 94 3300033276 curatus Q9Y4D2 747 DAGLA Homo sapiens 9606 Feature/sequence variant G735V; In dbSNP:rs35056845. VAR_049822 rs35056845 Y Y UniProtKB AAP, ASD 9/3/2014 103 3300033277 curatus Q9Y4D2 747 DAGLA Homo sapiens 9606 Feature/sequence variant P889L; In dbSNP:rs3741252. VAR_027274 rs3741252 Y Y UniProtKB AAP, ASD 9/3/2014 103 3300033278 curatus Q9Y4D2 747 DAGLA Homo sapiens 9606 Feature/sequence variant D945E; In dbSNP:rs34956386. VAR_049823 rs34956386 Y Y UniProtKB AAP, ASD 9/3/2014 103 3300033279 curatus Q99685 11343 MGLL Homo sapiens 9606 Feature/splice variant Q99685-2;Isoform 2;Position 1:M->METGPEDPSSM;In isoform 2. VSP_045138 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 129 3300033280 curatus Q99685 11343 MGLL Homo sapiens 9606 Feature/splice variant Q99685-2;Isoform 2;Position 161-190:Missing;In isoform 2. VSP_045139 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP, ASD 9/3/2014 129 3300033281 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/splice variant O94956-3;Isoform 3;Short;Position 1-22:Missing;In isoform 3. VSP_054109 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: NOTE,EVID AAP, ASD 9/3/2014 126 3300033284 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/sequence variant E77K; In a breast cancer sample; somatic mutation. VAR_036412 Y Y ECO:0000269 PubMed:16959974 UniProtKB AAP, ASD 9/3/2014 126 3300033286 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/sequence variant V201M; In dbSNP:rs35199625. VAR_053675 rs35199625 Y Y UniProtKB AAP, ASD 9/3/2014 126 3300033287 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/sequence variant R312Q; In dbSNP:rs12422149. VAR_053676 rs12422149 Y Y UniProtKB AAP, ASD 9/3/2014 126 3300033288 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/sequence variant I392T; In dbSNP:rs1621378. VAR_053677 rs1621378 Y Y ECO:0000269 PubMed:10873595 submission: PubMed:10048485 PubMed:14702039 PubMed:17974005 PubMed:15489334 UniProtKB AAP, ASD 9/3/2014 126 3300033289 curatus O94956 11309 SLCO2B1 Homo sapiens 9606 Feature/sequence variant S486F; In dbSNP:rs2306168. VAR_020294 rs2306168 Y Y ECO:0000269 PubMed:14702039 UniProtKB AAP, ASD 9/3/2014 126 3300033290 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Feature/splice variant Q8N6M6-2;Isoform 2;Position 455-553:Missing;In isoform 2 and isoform 4. VSP_013161 Y Y ECO:0000303 UniProtKB UPDATE ver_2 Changes in: EVID AAP 7/9/2014 103 3300033291 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Feature/sequence variant V179A; In dbSNP:rs16911679. VAR_021511 rs16911679 Y Y UniProtKB AAP 7/9/2014 103 3300033297 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Feature/sequence variant V179I; In dbSNP:rs16911679. VAR_057053 rs16911679 Y Y UniProtKB AAP 7/9/2014 103 3300033298 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Feature/sequence variant R255Q; In dbSNP:rs16911681. VAR_057054 rs16911681 Y Y UniProtKB AAP 7/9/2014 103 3300033299 curatus Q8N6M6 84909 AOPEP Homo sapiens 9606 Feature/sequence variant R386C; In dbSNP:rs34557833. VAR_057055 rs34557833 Y Y UniProtKB AAP 7/9/2014 103 3300033300 curatus Q9H4A4 6051 RNPEP Homo sapiens 9606 Feature/sequence variant V579I; In dbSNP:rs3820439. VAR_051566 rs3820439 Y Y UniProtKB AAP 9/3/2014 128 3300033301 curatus Q9HAU8 57140 RNPEPL1 Homo sapiens 9606 Feature/sequence variant V247M; In a colorectal cancer sample; somatic mutation. VAR_036046 Y Y ECO:0000269 PubMed:16959974 UniProtKB AAP 5/14/2014 122 3300033302 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant I85F; In PHOAR2. VAR_068636 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033303 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant R97H; In PHOAR2. VAR_068637 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033304 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant G181A; In PHOAR2. VAR_068638 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033305 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant G181D; In PHOAR2. VAR_068639 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033306 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant G222R; In PHOAR2. VAR_067598 Y Y ECO:0000269 PubMed:22197487 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033308 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant G255E; In PHOAR2. VAR_067599 Y Y ECO:0000269 PubMed:22197487 UniProtKB AAP, ASD 9/3/2014 119 3300033309 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant G255R; In PHOAR2. VAR_068641 Y Y ECO:0000269 PubMed:22696055 UniProtKB AAP, ASD 9/3/2014 119 3300033310 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant A396T; In dbSNP:rs34550074. VAR_053674 rs34550074 Y Y ECO:0000269 PubMed:8787677 PubMed:9618293 UniProtKB AAP, ASD 9/3/2014 119 3300033311 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant C420F; In PHOAR2; reduced activity. VAR_068642 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033312 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant R445C; In dbSNP:rs146970901. VAR_068643 rs146970901 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033313 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant Q556H; In PHOAR2. VAR_068644 Y Y ECO:0000269 PubMed:22696055 UniProtKB AAP, ASD 9/3/2014 119 3300033314 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant F557S; In PHOAR2. VAR_068352 Y Y ECO:0000269 PubMed:22331663 UniProtKB AAP, ASD 9/3/2014 119 3300033315 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant W565G; In PHOAR2. VAR_068645 Y Y ECO:0000269 PubMed:22553128 UniProtKB AAP, ASD 9/3/2014 119 3300033316 curatus P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-2;Isoform 2;Short;Position 396-432:Missing;In isoform 2 and isoform 3. VSP_004673 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 183 3300078049 curatus P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-6;Isoform 6;1b2;Position 1-3:MSR->MSRECDPGARWGIFLASWWSLECQLSPSSLSSAG;In isoform 6. VSP_054863 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 183 3300078050 curatus P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-5;Isoform 5;1b3;Position 1-3:MSR->MSRECDPGARWGIFLASGGALNARLSPSSLSSAG;In isoform 5. VSP_054862 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 183 3300078052 curatus P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-3;Isoform 3;Position 1-32:MSRSLLLWFLLFLLLLPPLPVLLADPGAPTPV->MRKPRLM;In isoform 3. VSP_053936 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 183 3300078053 curatus P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-3;Isoform 3;Position 396-432:Missing;In isoform 2 and isoform 3. VSP_004673 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 183 3300078054 curatus P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant V433M; Polymorphism probably associated with CMRES; increases warfarin maintenance dose in patients on warfarin anti-coagulant therapy, possibly due to increased hepatic vitamin K levels that warfarin must antagonize. Decreased phylloquinone omega-hydroxylase activity. Decreased production of 20-hydroxyeicosatetraenoic acid (20-HETE); dbSNP:rs2108622. VAR_013119 rs2108622 Y Y ECO:0000269 PubMed:15489334 PubMed:17341693 PubMed:18250228 PubMed:18574070 PubMed:19207028 PubMed:19270263 PubMed:19297519 PubMed:20555338 PubMed:23132553 submission: UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 158 3300078065 curatus O95864 9415 FADS2 Homo sapiens 9606 Feature/splice variant O95864-4;Isoform 4;Position 1-69:MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVYNITKWSIQHPGGQRVIGHYAGEDAT->MTREPPGCRRVNSLMLYTLRSITSHRSSHPERWATSSQ;In isoform 4. VSP_054809 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 129 3300078071 curatus Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant D446N; Common polymorphism; does not affect enzyme activity; dbSNP:rs1060463. VAR_071198 rs1060463 Y Y ECO:0000269 PubMed:10964514 PubMed:14702039 PubMed:15489334 PubMed:24138531 UniProtKB N ver_2 AAP 3/16/2016 141 3300078082 curatus O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant 691:Missing; In NBIA2A. VAR_029374 Y Y ECO:0000269 PubMed:16783378 PubMed:17033970 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 163 3300078084 curatus O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant D484G; In NBIA2A. VAR_070600 Y Y ECO:0000269 PubMed:23749988 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 163 3300078085 curatus O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant T661M; In NBIA2A. VAR_070601 Y Y ECO:0000269 PubMed:23749988 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 163 3300078086 curatus P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G45C; In FRFB; dbSNP:rs387906795. VAR_067343 rs387906795 Y Y ECO:0000269 PubMed:22137173 UniProtKB N ver_2 AAP, ASD 5/11/2016 151 3300078087 curatus P24557 6916 TBXAS1 Homo sapiens 9606 Feature/splice variant P24557-3;Isoform 3;Position 150:E->ELGLLIMQERIKGHMGGQQAPQRIPPTRLSKPSGIYVNLHYATLPFC;In isoform 3. VSP_054121 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 179 3300078094 curatus P24557 6916 TBXAS1 Homo sapiens 9606 Feature/splice variant P24557-4;Isoform 4;Position 460-533:Missing;In isoform 4. VSP_054123 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 179 3300078095 curatus P24557 6916 TBXAS1 Homo sapiens 9606 Feature/splice variant P24557-4;Isoform 4;Position 456-459:FTAE->YRCS;In isoform 4. VSP_054122 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 179 3300078096 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K247R; In allele CYP2C8*9; increases enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075545 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078097 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant E154D; VAR_001250 Y Y ECO:0000269 PubMed:3196692 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078098 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K399R; In allele CYP2C8*3; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; dbSNP:rs10509681. VAR_012240 rs10509681 Y Y ECO:0000269 PubMed:11668219 PubMed:12429347 PubMed:14702039 PubMed:15469410 PubMed:2216732 PubMed:26427316 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078099 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant N193K; VAR_001251 Y Y ECO:0000269 PubMed:3196692 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078100 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant G171S; In allele CYP2C8*6; no effect on affinity or enzymatic activiy with paclitaxel as substrate; decreases affinity for amodiaquine; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075541 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078101 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I264M; In allele CYP2C8*4; reduces enzymatic activity with paclitaxel as substrate; decreases affinity for amodiaquine; dbSNP:rs1058930. VAR_011754 rs1058930 Y Y ECO:0000269 PubMed:12429347 PubMed:15469410 PubMed:2009263 PubMed:26427316 PubMed:3500169 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078102 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K249R; VAR_001252 Y Y ECO:0000269 PubMed:3196692 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078103 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I269F; In allele CYP2C8*2; only found in African-Americans; increases intrinsic clearance of paclitaxel; decreases affinity for amodiaquine; increases enzymatic activity with amodiaquine as substrate; dbSNP:rs11572103. VAR_012239 rs11572103 Y Y ECO:0000269 PubMed:11668219 PubMed:12429347 PubMed:15469410 PubMed:26427316 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078104 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant A238P; In allele CYP2C8*14; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel. VAR_075544 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078105 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant 461:Missing; In allele CYP2C8*12; increases enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075547 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078106 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I223M; In allele CYP2C8*13; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075543 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078107 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K383N; In allele CYP2C8*10; reduces enzymatic activity with paclitaxel as substrate; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075546 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078108 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant H411L; VAR_001253 Y Y ECO:0000269 PubMed:3196692 PubMed:7574697 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078109 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant R186G; In allele CYP2C8*8; increases affinity for paclitaxel; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; decreases intrinsic clearance of amodiaquine. VAR_075542 Y Y ECO:0000269 PubMed:26427316 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078110 curatus P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant R139K; In allele CYP2C8*3; reduces enzymatic activity with paclitaxel as substrate; decreases intrinsic clearance of paclitaxel; reduces enzymatic activity with amodiaquine as substrate; dbSNP:rs11572080. VAR_012238 rs11572080 Y Y ECO:0000269 PubMed:11668219 PubMed:12429347 PubMed:14702039 PubMed:15469410 PubMed:26427316 PubMed:2729895 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 185 3300078111 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/mutagenesis site A451G; Increases the O2-dependent dioxygenase activity. Y Y ECO:0000269 PubMed:20921226 PubMed:20923767 UniProtKB N ver_2 AAP 3/16/2016 134 3300078112 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant V500F; In ARCI3; complete loss of the enzyme activity. VAR_015176 Y Y ECO:0000269 PubMed:11773004 PubMed:15629692 UniProtKB N ver_2 AAP 3/16/2016 134 3300078113 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant G281V; In ARCI3; complete loss of the enzyme activity. VAR_069562 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 3/16/2016 134 3300078114 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant P630L; In ARCI3; complete loss of the enzyme activity. VAR_069565 Y Y ECO:0000269 PubMed:16116617 PubMed:19131948 PubMed:19890349 UniProtKB N ver_2 AAP 3/16/2016 134 3300078115 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant L427P; In ARCI3. VAR_069564 Y Y ECO:0000269 PubMed:19890349 UniProtKB N ver_2 AAP 3/16/2016 134 3300078116 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant QYVA344-347P; In ARCI3; complete loss of the enzyme activity. VAR_069563 Y Y ECO:0000269 PubMed:19131948 UniProtKB N ver_2 AAP 3/16/2016 134 3300078117 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant L237M; In ARCI3; no effect on enzyme activity. VAR_069561 Y Y ECO:0000269 PubMed:16116617 PubMed:19131948 UniProtKB N ver_2 AAP 3/16/2016 134 3300078118 curatus Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant R396S; In ARCI3; complete loss of the enzyme activity. VAR_015175 Y Y ECO:0000269 PubMed:11773004 PubMed:15629692 UniProtKB N ver_2 AAP 3/16/2016 134 3300078119 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/splice variant P09917-4;Isoform 4;delta-10-13;Position 534-674:Missing;In isoform 4. VSP_053537 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078120 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/splice variant P09917-2;Isoform 2;Delta-13;Position 559-615:Missing;In isoform 2. VSP_046998 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078121 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/splice variant P09917-4;Isoform 4;delta-10-13;Position 425-533:ANATGGGGHVQMVQRAMKDLTYASLCFPEAIKARGMESKEDIPYYFYRDDGLLVWEAIRTFTAEVVDIYYEGDQVVEEDPELQDFVNDVYVYGMRGRKSSGFPKSVKSR->VHGRGGRHLLRGRPGGGGGPGAAGLRERCLRVRHAGPQVLRLPQVGQEPGAAVGVPDRGDLHRLRPARRGQLRPAVPGHVPRRAFYREACEGSHGPIPQEPRGHCQRDC;In isoform 4. VSP_053535 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078122 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/splice variant P09917-3;Isoform 3;delta-p10;Position 424-455:Missing;In isoform 3. VSP_053534 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078123 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/splice variant P09917-5;Isoform 5;alpha-10;Position 485-674:Missing;In isoform 5. VSP_053536 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078124 curatus P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site W103A; Abolishes binding to COTL1. Y Y ECO:0000269 PubMed:19807693 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 5/11/2016 178 3300078125 curatus O14734 10005 ACOT8 Homo sapiens 9606 Feature/mutagenesis site H78A; Reduces Acyl-CoA thioesterase activity and peroxisome proliferation. Y Y ECO:0000269 PubMed:15194431 UniProtKB N ver_2 AAP 4/13/2016 152 3300078146 curatus P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant D174H; In allele CYP3A4*10; dbSNP:rs4986908. VAR_011603 rs4986908 Y Y ECO:0000269 PubMed:11470997 PubMed:11875366 PubMed:15469410 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 187 3300078147 curatus P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T363M; In allele CYP3A4*11; unstable form; dbSNP:rs67784355. VAR_011606 rs67784355 Y Y ECO:0000269 PubMed:11470997 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 187 3300078148 curatus Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C113S; Slightly decreased enzyme activity. Y Y ECO:0000269 PubMed:12804604 UniProtKB N ver_2 AAP 5/11/2016 139 3300078149 curatus Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/sequence variant E380G; In SPG56. VAR_069577 Y Y ECO:0000269 PubMed:23176821 UniProtKB N ver_2 AAP 3/16/2016 127 3300078232 curatus Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/sequence variant D316V; In SPG56. VAR_069576 Y Y ECO:0000269 PubMed:23176821 UniProtKB N ver_2 AAP 3/16/2016 127 3300078233 curatus Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/sequence variant R488W; In SPG56. VAR_069578 Y Y ECO:0000269 PubMed:23176821 UniProtKB N ver_2 AAP 3/16/2016 127 3300078234 curatus Q7Z449 113612 CYP2U1 Homo sapiens 9606 Feature/sequence variant C262R; In SPG56. VAR_069575 Y Y ECO:0000269 PubMed:23176821 UniProtKB N ver_2 AAP 3/16/2016 127 3300078235 curatus Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/splice variant Q08477-2;Isoform CYP4F3B;Position 67-114:IHSSEEGLLYTQSLACTFGDMCCWWVGPWHAIVRIFHPTYIKPVLFAP->VTPTEQGMRVLTQLVATYPQGFKVWMGPIFPVIRFCHPNIIRSVINAS;In isoform CYP4F3B. VSP_047193 Y Y ECO:0000303 UniProtKB N ver_2 AAP 5/11/2016 160 3300078288 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant 281:Missing; In allele CYP2D6*9. VAR_008347 Y Y ECO:0000269 PubMed:1844820 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078289 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R344Q; VAR_072778 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078290 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E215K; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. VAR_072771 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078291 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R497C; VAR_072782 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078292 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R440C; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. VAR_072779 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078293 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant K147R; In allele CYP2D6*90. VAR_072768 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078294 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A5V; In allele CYP2D6*87. VAR_072764 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078295 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant V104A; In allele CYP2D6*88. VAR_072766 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078296 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant D337G; In allele CYP2D6*94. VAR_072776 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078297 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant F457L; In allele CYP2D6*97. VAR_072780 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078298 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R296C; In allele CYP2D6*2, allele CYP2D6*12, allele CYP2D6*14, allele CYP2D6*17, allele CYP2D6*45A, allele CYP2D6*45B and allele CYP2D6*46; slightly decrease of monooxygenase activity towards bufuralol; dbSNP:rs16947. VAR_008340 rs16947 Y Y ECO:0000269 PubMed:10591208 PubMed:15469410 PubMed:15489334 PubMed:15768052 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078299 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant F219S; VAR_072772 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078300 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant T249P; In allele CYP2D6*93; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. VAR_072773 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078301 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant V342M; VAR_072777 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078302 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant D336N; VAR_072775 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078303 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant R25Q; VAR_072765 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078304 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant V327M; VAR_072774 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078305 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant H463D; In allele CYP2D6*98. VAR_072781 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078306 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant F164L; VAR_072770 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078307 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant C161S; In allele CYP2D6*91. VAR_072769 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078308 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L142S; In allele CYP2D6*89; >90% decrease of monooxygenase activity towards dextromethorphan and bufuralol. VAR_072767 Y Y ECO:0000269 PubMed:25469868 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078309 curatus Q92959 6578 SLCO2A1 Homo sapiens 9606 Feature/sequence variant S204L; In PHOAR2; dbSNP:rs555934769. VAR_068640 rs555934769 Y Y ECO:0000269 PubMed:22553128 UniProtKB N ver_2 AAP, ASD 5/11/2016 135 3300078433 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/mutagenesis site E426Q; Catalytically inactive. Does not affect mitochondrial complex I assembly. Y Y ECO:0000269 PubMed:24158852 UniProtKB N ver_2 AAP 4/13/2016 138 3300078439 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant G303S; In ACAD9 deficiency; unknown pathological significance; dbSNP:rs143383023. VAR_071898 rs143383023 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078440 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant F44I; In ACAD9 deficiency; dbSNP:rs387907041. VAR_071892 rs387907041 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078441 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant E413K; In ACAD9 deficiency; unknown pathological significance; dbSNP:rs149753643. VAR_071900 rs149753643 Y Y ECO:0000269 PubMed:20816094 UniProtKB N ver_2 AAP 4/13/2016 138 3300078442 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant A220V; In ACAD9 deficiency. VAR_071895 Y Y ECO:0000269 PubMed:23996478 UniProtKB N ver_2 AAP 4/13/2016 138 3300078443 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R532W; In ACAD9 deficiency; dbSNP:rs377022708. VAR_071905 rs377022708 Y Y ECO:0000269 PubMed:20929961 PubMed:21057504 PubMed:22499348 UniProtKB N ver_2 AAP 4/13/2016 138 3300078444 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R414C; In ACAD9 deficiency. VAR_071901 Y Y ECO:0000269 PubMed:23836383 UniProtKB N ver_2 AAP 4/13/2016 138 3300078445 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant S234F; In ACAD9 deficiency; unknown pathological significance. VAR_071896 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078446 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R417C; In ACAD9 deficiency; dbSNP:rs368949613. VAR_071902 rs368949613 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078447 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R266Q; In ACAD9 deficiency; dbSNP:rs387907042. VAR_071897 rs387907042 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078448 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R127K; In ACAD9 deficiency. VAR_071893 Y Y ECO:0000269 PubMed:20929961 UniProtKB N ver_2 AAP 4/13/2016 138 3300078449 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R518H; In ACAD9 deficiency. VAR_071904 Y Y ECO:0000269 PubMed:20816094 UniProtKB N ver_2 AAP 4/13/2016 138 3300078450 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R469W; In ACAD9 deficiency; dbSNP:rs139145143. VAR_071903 rs139145143 Y Y ECO:0000269 PubMed:20929961 UniProtKB N ver_2 AAP 4/13/2016 138 3300078451 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant A326T; In ACAD9 deficiency; unknown pathological significance; dbSNP:rs115532916. VAR_071899 rs115532916 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078452 curatus Q9H845 28976 ACAD9 Homo sapiens 9606 Feature/sequence variant R193W; In ACAD9 deficiency; unknown pathological significance; dbSNP:rs377547811. VAR_071894 rs377547811 Y Y ECO:0000269 PubMed:21057504 UniProtKB N ver_2 AAP 4/13/2016 138 3300078453 curatus P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant R76H; In allele CYP2E1*2; reduced activity; dbSNP:rs72559710. VAR_008360 rs72559710 Y Y ECO:0000269 PubMed:9058590 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 176 3300078536 curatus P07203 2876 GPX1 Homo sapiens 9606 Feature/splice variant P07203-2;Isoform 2;Position 99-203:Missing;In isoform 2. VSP_047370 Y Y ECO:0000305 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 189 3300078537 curatus P07203 2876 GPX1 Homo sapiens 9606 Feature/splice variant P07203-2;Isoform 2;Position 85-98:ENAKNEEILNSLKY->VRRAERGGAGADVQ;In isoform 2. VSP_047369 Y Y ECO:0000305 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 189 3300078538 curatus P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 8:Missing; VAR_020914 Y Y ECO:0000269 PubMed:12496980 PubMed:15331559 PubMed:1556108 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 189 3300078539 curatus P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant A194T; In dbSNP:rs6446261. VAR_020915 rs6446261 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 189 3300078540 curatus P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 7-8:Missing; VAR_020913 Y Y ECO:0000269 PubMed:12496980 PubMed:2307470 PubMed:2955287 PubMed:3658677 PubMed:3697069 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 189 3300078541 curatus P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant M369V; In dbSNP:rs72475894. VAR_055396 rs72475894 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 167 3300078549 curatus P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant E470G; No effect on phosphatase activity and epoxyde hydrolase activity; dbSNP:rs68053459. VAR_055397 rs68053459 Y Y ECO:0000269 PubMed:12869654 PubMed:15196990 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 167 3300078550 curatus P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R52Q; In dbSNP:rs72475803. VAR_055393 rs72475803 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 167 3300078551 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site S269L; No expression nor activity. Y Y ECO:0000269 PubMed:16154994 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078552 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site H460{ACN}; Loss of enzymatic activity. Y Y ECO:0000269 PubMed:16154994 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078553 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site D400N; Low expression, loss of enzymatic activity. Y Y ECO:0000269 PubMed:18480028 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078554 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site S269{AT}; Nearly normal expression and enzyme activity. Y Y ECO:0000269 PubMed:16154994 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078555 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site S456A; Loss of enzymatic activity. Y Y ECO:0000269 PubMed:18480028 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078556 curatus P35610 6646 SOAT1 Homo sapiens 9606 Feature/mutagenesis site Y518F; Loss of enzymatic activity. Y Y ECO:0000269 PubMed:18480028 UniProtKB N ver_2 AAP, ASD 4/13/2016 155 3300078557 curatus P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-8;Isoform 3;beta3;Position 1-3:MAV->MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEK;In isoform 2, isoform 3 and isoform 5. VSP_039387 Y Y ECO:0000303 UniProtKB N ver_2 AAP 3/16/2016 79 3300078562 curatus P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/splice variant P0C869-7;Isoform 2;beta2;Position 1-3:MAV->MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEK;In isoform 2, isoform 3 and isoform 5. VSP_039387 Y Y ECO:0000303 UniProtKB N ver_2 AAP 3/16/2016 79 3300078563 curatus P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-11;Isoform EP3E2;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEAMRKRRLREQLICSLRTLRYRGQLHIVGKYKPIVC;In isoform EP3E2. VSP_053777 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 164 3300078568 curatus P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-5;Isoform EP3E;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQLICSLQNSQIQRATAHCGQVQTYRVLNREEMEVLVSSINVYTRISTVKTE;In isoform EP3E. VSP_001938 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 164 3300078569 curatus P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-9;Isoform EP3-IV;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEAMRKRRLREQEEFWGN;In isoform EP3-IV. VSP_053775 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 164 3300078570 curatus P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-8;Isoform EP3-III;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEAEEFWGN;In isoform EP3-III. VSP_053774 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 164 3300078571 curatus P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-10;Isoform EP3-V;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->VANAVSSCSNDGQKGQPISLSNEIIQTEAMRKRRLREQEMGPDGRCFCHAWRQVPRTWCSSHDREPCSVQLS;In isoform EP3-V. VSP_053776 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 164 3300078572 curatus Q04828 1645 AKR1C1 Homo sapiens 9606 Feature/sequence variant R170H; In dbSNP:rs139588200. VAR_048214 rs139588200 Y Y UniProtKB N ver_2 AAP, ASD 4/13/2016 174 3300078573 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/mutagenesis site V395L; Invertes the 4OH E2:2OH E2 hydroxylation preference from 5.1 to 0.45. Y Y ECO:0000269 PubMed:23821647 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078575 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V320L; In GLC3A; dbSNP:rs72549382. VAR_054247 rs72549382 Y Y ECO:0000269 PubMed:11527932 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078576 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330F; In GLC3A; requires 2 nucleotide substitutions; unknown pathological significance. VAR_054248 Y Y ECO:0000269 PubMed:11527932 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078577 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S515L; In POAG; unknown pathological significance. VAR_054265 Y Y ECO:0000269 PubMed:16688110 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078578 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 269-271:Missing; In GLC3A and POAG. VAR_054246 Y Y ECO:0000269 PubMed:10655546 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078579 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 355-358:Missing; In GLC3A. VAR_054252 Y Y ECO:0000269 PubMed:12525557 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078580 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P193L; In GLC3A; dbSNP:rs529769268. VAR_054239 rs529769268 Y Y ECO:0000269 PubMed:11980847 PubMed:15475877 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078581 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390S; In GLC3A; dbSNP:rs148542782. VAR_054256 rs148542782 Y Y ECO:0000269 PubMed:10655546 PubMed:14635112 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078582 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A443G; In GLC3A and POAG; allele CYP1B1*7; unknown pathological significance; dbSNP:rs4986888. VAR_018774 rs4986888 Y Y ECO:0000269 PubMed:11854439 PubMed:12036985 PubMed:15342693 PubMed:16862072 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078583 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L345F; In POAG; dbSNP:rs66583685. VAR_054251 rs66583685 Y Y ECO:0000269 PubMed:11774072 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078584 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R368H; In GLC3A and GLC1A; acts as GLC1A disease modifier in patients also carrying Val-399 mutation in MYOC; dbSNP:rs79204362. VAR_016034 rs79204362 Y Y ECO:0000269 PubMed:10655546 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:15475877 PubMed:16490498 PubMed:16688110 PubMed:16735994 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078585 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 343:Missing; In GLC3A; reduces enzymatic activity and also the abundance of the enzyme. VAR_054250 Y Y ECO:0000269 PubMed:16735994 PubMed:18470941 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078586 curatus Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S215I; In GLC3A; dbSNP:rs72549384. VAR_054242 rs72549384 Y Y ECO:0000269 PubMed:12525557 UniProtKB N ver_2 AAP, ASD 5/11/2016 186 3300078587 curatus P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant K139E; In allele CYP2B6*8 and allele CYP2B6*13; dbSNP:rs12721655. VAR_016948 rs12721655 Y Y ECO:0000269 PubMed:14551287 PubMed:15190123 UniProtKB N ver_2 AAP, ASD 5/11/2016 178 3300078590 curatus P24752 38 ACAT1 Homo sapiens 9606 Feature/splice variant P24752-2;Isoform 2;Position 146-162:DVMVAGGMESMSNVPYV->IKQETGSLAKICCHVRR;In isoform 2. VSP_056844 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 177 3300078591 curatus P24752 38 ACAT1 Homo sapiens 9606 Feature/splice variant P24752-2;Isoform 2;Position 163-427:Missing;In isoform 2. VSP_056845 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 177 3300078592 curatus P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant 85:Missing; In 3KTD. VAR_007497 Y Y ECO:0000311 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 177 3300078593 curatus P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant I192N; In allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only; dbSNP:rs66515830. VAR_014319 rs66515830 Y Y ECO:0000269 PubMed:11901223 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 156 3300078594 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant V527M; In ARCI2. VAR_069557 Y Y ECO:0000269 PubMed:19890349 UniProtKB N ver_2 AAP 1/20/2016 146 3300078595 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant A597E; In ARCI2. VAR_069558 Y Y ECO:0000269 PubMed:19890349 UniProtKB N ver_2 AAP 1/20/2016 146 3300078596 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant K382E; In ARCI2; complete loss of the enzyme activity. VAR_069551 Y Y ECO:0000269 PubMed:19131948 UniProtKB N ver_2 AAP 1/20/2016 146 3300078597 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant F195L; In ARCI2; complete loss of the enzyme activity; dbSNP:rs200516538. VAR_069549 rs200516538 Y Y ECO:0000269 PubMed:19131948 UniProtKB N ver_2 AAP 1/20/2016 146 3300078598 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant G462D; In ARCI2. VAR_069554 Y Y ECO:0000269 PubMed:19890349 UniProtKB N ver_2 AAP 1/20/2016 146 3300078599 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant A664P; In ARCI2; complete loss of the enzyme activity. VAR_069559 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078600 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant R114W; In ARCI2. VAR_069547 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078601 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant R679L; In ARCI2. VAR_069560 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078602 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant L426P; In ARCI2; complete loss of the enzyme activity. VAR_015173 Y Y ECO:0000269 PubMed:11773004 PubMed:15629692 UniProtKB N ver_2 AAP 1/20/2016 146 3300078603 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant R488H; In ARCI2; complete loss of the enzyme activity. VAR_069555 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078604 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant L24P; In ARCI2. VAR_069545 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078605 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant I67F; In ARCI2. VAR_069546 Y Y ECO:0000269 PubMed:19890349 UniProtKB N ver_2 AAP 1/20/2016 146 3300078606 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant Y521C; In ARCI2. VAR_069556 Y Y ECO:0000269 PubMed:16116617 PubMed:19890349 UniProtKB N ver_2 AAP 1/20/2016 146 3300078607 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant P127S; In ARCI2; dbSNP:rs72842957. VAR_069548 rs72842957 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078608 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant Y318C; In ARCI2. VAR_069550 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078609 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant T383M; In ARCI2. VAR_069552 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078610 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant H578Q; In ARCI2; complete loss of the enzyme activity. VAR_015174 Y Y ECO:0000269 PubMed:11773004 PubMed:15629692 UniProtKB N ver_2 AAP 1/20/2016 146 3300078611 curatus O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant N416K; In ARCI2. VAR_069553 Y Y ECO:0000269 PubMed:16116617 UniProtKB N ver_2 AAP 1/20/2016 146 3300078612 curatus Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H96R; In dbSNP:rs62541892. VAR_055389 rs62541892 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, ASD 3/16/2016 142 3300078613 curatus Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H73R; In dbSNP:rs62541891. VAR_055388 rs62541891 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, ASD 3/16/2016 142 3300078614 curatus Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant Q65H; In dbSNP:rs62541890. VAR_055387 rs62541890 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, ASD 3/16/2016 142 3300078615 curatus Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121C; In dbSNP:rs62541900. VAR_055390 rs62541900 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP, ASD 3/16/2016 142 3300078616 curatus O60427 3992 FADS1 Homo sapiens 9606 Feature/sequence variant P272S; In dbSNP:rs17856235. VAR_035340 rs17856235 Y Y ECO:0000269 PubMed:15489334 UniProtKB N ver_2 AAP, ASD 5/11/2016 137 3300078618 curatus P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant N204H; In allele CYP2C9*57. VAR_075288 Y Y ECO:0000269 PubMed:23582453 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 184 3300078621 curatus P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant I434F; In allele CYP2C9*59; produces warfarin hypersensitivity; increases affinity but highly decreases enzymatic acitivty for tolbutamide; no effect on affinity but decreases enzymatic activity for diclofenac; decreases affinity and highly decreases enzymatic activity for losartan. VAR_075289 Y Y ECO:0000269 PubMed:25994031 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 184 3300078622 curatus P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R125H; In allele CYP2C9*35. VAR_075286 Y Y ECO:0000269 PubMed:24956244 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 184 3300078623 curatus P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant R125L; In allele CYP2C9*14. VAR_075287 Y Y ECO:0000269 PubMed:21451434 UniProtKB N ver_2 AAP, DGA, ASD 4/13/2016 184 3300078624 curatus Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R243H; In ARCI5; dbSNP:rs118203937. VAR_037442 rs118203937 Y Y ECO:0000269 PubMed:16436457 UniProtKB N ver_2 AAP 3/16/2016 115 3300078625 curatus Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H436D; In ARCI5. VAR_037445 Y Y ECO:0000269 PubMed:16436457 UniProtKB N ver_2 AAP 3/16/2016 115 3300078626 curatus Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant F59L; In ARCI5. VAR_037441 Y Y ECO:0000269 PubMed:16436457 UniProtKB N ver_2 AAP 3/16/2016 115 3300078627 curatus Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R372W; In ARCI5. VAR_037443 Y Y ECO:0000269 PubMed:16436457 UniProtKB N ver_2 AAP 3/16/2016 115 3300078628 curatus Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H435Y; In ARCI5. VAR_037444 Y Y ECO:0000269 PubMed:16436457 UniProtKB N ver_2 AAP 3/16/2016 115 3300078629 curatus O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant 140:Missing; In CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. VAR_017326 Y Y ECO:0000269 PubMed:11967537 PubMed:15629135 UniProtKB N ver_2 AAP 3/16/2016 148 3300078653 curatus O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant L228P; In CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. VAR_017327 Y Y ECO:0000269 PubMed:11967537 PubMed:15629135 UniProtKB N ver_2 AAP 3/16/2016 148 3300078654 curatus O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant G136R; In CGL1; reduced 1-acyl-sn-glycerol-3-phosphate acyltransferase activity. VAR_017328 Y Y ECO:0000269 PubMed:11967537 PubMed:15629135 UniProtKB N ver_2 AAP 3/16/2016 148 3300078655 curatus O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant A239V; In CGL1; 90% of wild-type 1-acyl-sn-glycerol-3-phosphate acyltransferase activity; dbSNP:rs145975461. VAR_017325 rs145975461 Y Y ECO:0000269 PubMed:11967537 PubMed:15629135 UniProtKB N ver_2 AAP 3/16/2016 148 3300078656 curatus P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant T560M; Loss of catalytic activity; dbSNP:rs34210653. VAR_035039 rs34210653 Y Y ECO:0000269 PubMed:17959182 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 169 3300078660 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H365Q; Complete loss of catalytic activity. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078661 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H392Q; No effect on catalytic activity. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078662 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H355Q; No effect on catalytic activity. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078663 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H540Q; Complete loss of catalytic activity. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078664 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H383Q; Altered catalytic activity and protein expression. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078665 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site H360{QY}; Complete loss of catalytic activity. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078666 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site A417I; Reduced catalytic activity. Alters the stereoselectivity of the oxygenation reaction. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078667 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site K416Q; Reduced catalytic activity. No effect on the stereoselectivity of the oxygenation reaction. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078668 curatus P18054 239 ALOX12 Homo sapiens 9606 Feature/mutagenesis site V418M; No effect on catalytic activity. No effect on the stereoselectivity of the oxygenation reaction. Y Y ECO:0000269 PubMed:8500694 UniProtKB N ver_2 AAP, DGA, AAP-M 5/11/2016 177 3300078669 curatus P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 1-53:MPEIVDTCSLASPASVCRTKHLHLRCSVDFTRRTLTGTAALTVQSQEDNLRSL->MLPQRNLSKRQVPTMHIPVKTRRLLAALK;In isoform 3 and isoform 4. VSP_041107 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 5/11/2016 199 3300078670 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-3;Isoform 3;VAR-2;Position 276-359:Missing;In isoform 3. VSP_053595 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078676 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-3;Isoform 3;VAR-2;Position 267-275:VTMANIGIN->KIEGKIKVT;In isoform 3. VSP_053589 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078677 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-5;Isoform 5;VAR-4;Position 297-359:Missing;In isoform 5. VSP_053597 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078678 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-4;Isoform 4;VAR-3;Position 292-359:Missing;In isoform 4. VSP_053596 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078679 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-4;Isoform 4;VAR-3;Position 267-291:VTMANIGINGNHSLETCETTLFALR->GYRIILNGKEKYKVYEEQSDFLHRK;In isoform 4. VSP_053588 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078680 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-2;Isoform 2;VAR-1;Position 267-359:VTMANIGINGNHSLETCETTLFALRMATWNQILDPWVYILLRKAVLKNLYKLASQCCGVHVISLHIWELSSIKNSLKVAAISESPVAEKSAST->GYRIILNGKEKYKVYEEQSDFLHRLQWPTLE;In isoform 2. VSP_042025 Y Y ECO:0000303 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078681 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-6;Isoform 6;VAR-5;Position 268-359:Missing;In isoform 6. VSP_053592 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078682 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-5;Isoform 5;VAR-4;Position 268-296:TMANIGINGNHSLETCETTLFALRMATWN->KETHLQMRLWTWDFRVNALEDYCEGLTVF;In isoform 5. VSP_053593 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078683 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-6;Isoform 6;VAR-5;Position 267:V->R;In isoform 6. VSP_053591 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078684 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-7;Isoform 7;VAR-6;Position 267-274:VTMANIGI->THWGKEIP;In isoform 7. VSP_053590 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078685 curatus P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-7;Isoform 7;VAR-6;Position 275-359:Missing;In isoform 7. VSP_053594 Y Y ECO:0000305 UniProtKB N ver_2 AAP, ASD 3/16/2016 146 3300078686 curatus Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/sequence variant G230V; In SCA38. VAR_072362 Y Y ECO:0000269 PubMed:25065913 UniProtKB N ver_2 AAP 4/13/2016 126 3300078687 curatus Q9NYP7 60481 ELOVL5 Homo sapiens 9606 Feature/sequence variant L72V; In SCA38. VAR_072361 Y Y ECO:0000269 PubMed:25065913 UniProtKB N ver_2 AAP 4/13/2016 126 3300078688 curatus Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant K276T; In allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs149718343. VAR_044358 rs149718343 Y Y ECO:0000269 PubMed:16806293 UniProtKB N ver_2 AAP 3/16/2016 107 3300078689 curatus Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant V185F; In allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs113777592. VAR_044354 rs113777592 Y Y ECO:0000269 PubMed:16806293 UniProtKB N ver_2 AAP 3/16/2016 107 3300078690 curatus Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant R11C; In allele CYP4A22*2 and CYP4A22*3; dbSNP:rs76011927. VAR_044349 rs76011927 Y Y ECO:0000269 PubMed:16806293 UniProtKB N ver_2 AAP 3/16/2016 107 3300078691 curatus Q16647 5740 PTGIS Homo sapiens 9606 Feature/sequence variant A447T; In allele CYP8A1*5; results in a significantly decreased enzyme activity; dbSNP:rs146531327. VAR_073186 rs146531327 Y Y ECO:0000269 PubMed:25623425 UniProtKB N ver_2 AAP, DGA, AAP-M, ASD 3/16/2016 161 3300078702 curatus O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-4;Isoform 4;Position 860-1325:Missing;In isoform 3 and isoform 4. VSP_043284 Y Y ECO:0000303 UniProtKB N ver_2 AAP, AAP-M, ASD 5/11/2016 161 3300078704 curatus O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-4;Isoform 4;Position 103-177:Missing;In isoform 4. VSP_057413 Y Y ECO:0000303 UniProtKB N ver_2 AAP, AAP-M, ASD 5/11/2016 161 3300078706 curatus O15439 10257 ABCC4 Homo sapiens 9606 Feature/splice variant O15439-4;Isoform 4;Position 846-859:TLLQVVGVVSVAVA->RWDLAVLSWLVSNS;In isoform 3 and isoform 4. VSP_043283 Y Y ECO:0000303 UniProtKB N ver_2 AAP, AAP-M, ASD 5/11/2016 161 3300078707 curatus P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E193Y; Loss of autocatalytic cleavage, cell membrane localization and decrease in catalytic activity; when associated with W-192. Y Y ECO:0000269 PubMed:23682772 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 182 3300078708 curatus P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site Q545K; Reduces enzyme activity by 97%. Y Y ECO:0000269 PubMed:24047895 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 182 3300078709 curatus P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site C192W; Loss of autocatalytic cleavage, cell membrane localization and decrease in catalytic activity; when associated with Y-193. Y Y ECO:0000269 PubMed:23682772 UniProtKB N ver_2 AAP, DGA, ASD 3/16/2016 182 3300078710 curatus Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/splice variant Q9UP65-2;Isoform 2;Position 528-541:Missing;In isoform 2. VSP_045850 Y Y ECO:0000305 UniProtKB N ver_2 AAP 3/16/2016 125 3300078711 curatus Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/splice variant Q9UP65-3;Isoform 3;Position 1-13:MGSSEVSIIPGLQ->MRTRPRPRLRRTENFLTAVHHGK;In isoform 3. VSP_045849 Y Y ECO:0000303 UniProtKB N ver_2 AAP 3/16/2016 125 3300078712 curatus Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant R430C; In dbSNP:rs191276960. VAR_018423 rs191276960 Y Y ECO:0000269 submission: UniProtKB N ver_2 AAP 3/16/2016 125 3300078713 curatus P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant R485H; Probable disease-associated mutation found in a compound heterozygote affected by phospholipase A2 deficiency also carrying P-111; dbSNP:rs121434635. VAR_070779 rs121434635 Y Y ECO:0000269 PubMed:18451993 UniProtKB N ver_2 AAP, ASD 5/11/2016 174 3300078714 curatus P47712 5321 PLA2G4A Homo sapiens 9606 Feature/sequence variant S111P; Probable disease-associated mutation found in a compound heterozygote affected by phospholipase A2 deficiency also carrying H-485; dbSNP:rs121434634. VAR_070778 rs121434634 Y Y ECO:0000269 PubMed:18451993 UniProtKB N ver_2 AAP, ASD 5/11/2016 174 3300078715 curatus Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant NGIHLRLRRLPNPCEDKDQL500-519MESTCVSGGSLTLVKTRTSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAVPQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS; In CYP4A11V. VAR_001257 Y Y UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 153 3300078716 curatus P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant A161P; In dbSNP:rs181297724. VAR_024084 rs181297724 Y Y ECO:0000269 PubMed:16141610 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 158 3300078717 curatus P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R442C; In allele CYP2C19*16; lowered catalytic activity; dbSNP:rs192154563. VAR_021275 rs192154563 Y Y ECO:0000269 PubMed:15499191 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 158 3300078718 curatus Q9BX93 84647 PLA2G12B Homo sapiens 9606 Feature/splice variant Q9BX93-2;Isoform 2;Position 157:Missing;In isoform 2. VSP_054398 Y Y ECO:0000303 UniProtKB N ver_2 AAP 5/11/2016 128 3300078719 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-4;Isoform D;15-LOb2;Position 401-429:Missing;In isoform B and isoform D. VSP_003142 Y Y ECO:0000303 UniProtKB N ver_2 AAP 3/16/2016 158 3300078721 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/mutagenesis site E44A; Abolishes calcium-dependent association with membranes; when associated with A-39 and A-85. Y Y ECO:0000269 PubMed:24497644 UniProtKB N ver_2 AAP 3/16/2016 158 3300078722 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/mutagenesis site D85A; Abolishes calcium-dependent association with membranes; when associated with A-39 and A-44. Y Y ECO:0000269 PubMed:24497644 UniProtKB N ver_2 AAP 3/16/2016 158 3300078723 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/mutagenesis site D602Y; No effect on the stereoselectivity of the oxygenation reaction. Completely changes the stereoselectivity of the oxygenation reaction to produce (8S)-HPETE instead of (15S)-HPETE; when associated with H-603. Y Y ECO:0000269 PubMed:10625675 UniProtKB N ver_2 AAP 3/16/2016 158 3300078724 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/mutagenesis site D39A; Abolishes calcium-dependent association with membranes; when associated with A-44 and A-85. Y Y ECO:0000269 PubMed:24497644 UniProtKB N ver_2 AAP 3/16/2016 158 3300078725 curatus O15296 247 ALOX15B Homo sapiens 9606 Feature/mutagenesis site V603H; Changes the stereoselectivity of the oxygenation reaction. Completely changes the stereoselectivity of the oxygenation reaction to produce (8S)-HPETE instead of (15S)-HPETE; when associated with Y-602. Y Y ECO:0000269 PubMed:10625675 UniProtKB N ver_2 AAP 3/16/2016 158 3300078726 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/splice variant O95255-2;Isoform 2;URG7;Position 75-99:LGFALIVLCTSSVAVALWKIQQGTP->AAIPGSLEPGNVRGRQGTGWNLVKS;In isoform 2. VSP_047315 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078727 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/splice variant O95255-3;Isoform 3;Delta19Delta24;Position 806-871:TRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTST->KQNLGPAPRTPEAPLQAGGPSLDARGPSSQSLRRTVPLQKPRQRFLWMTLTGQDGQQERTASNTAG;In isoform 3. VSP_057077 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078728 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/splice variant O95255-2;Isoform 2;URG7;Position 100-1503:Missing;In isoform 2. VSP_047316 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078729 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/splice variant O95255-3;Isoform 3;Delta19Delta24;Position 872-1503:Missing;In isoform 3. VSP_057078 Y Y ECO:0000303 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078730 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A1442T; Found in patient with putative diagnosis of PEX; uncertain pathological significance. VAR_072813 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078731 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant E125K; In PXE; loss-of-function mutation; localization comparable to wild-type; dbSNP:rs3853814. VAR_067842 rs3853814 Y Y ECO:0000269 PubMed:16086317 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078732 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R64Q; Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type. VAR_072806 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078733 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant M834T; Found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072811 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078734 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A9E; Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072804 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078735 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant P21S; Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072805 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078736 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant P4H; Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072803 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078737 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant R419Q; Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072808 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078738 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L605P; Found in patient with putative diagnosis of PEX; uncertain pathological significance; mutant protein is retained in the cytoplasm. VAR_072809 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078739 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A90T; Found in patient with putative diagnosis of PXE; uncertain pathological significance. VAR_072807 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078740 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant L948P; Found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072812 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078741 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant E709G; Found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. VAR_072810 Y Y ECO:0000269 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078742 curatus O95255 368 ABCC6 Homo sapiens 9606 Feature/sequence variant A78T; In PXE. VAR_067841 Y Y ECO:0000269 PubMed:16086317 PubMed:19339160 PubMed:25615550 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 175 3300078743 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant T486I; Altered transporter activity; dbSNP:rs17222589. VAR_070607 rs17222589 Y Y ECO:0000269 PubMed:22290738 UniProtKB N ver_2 AAP, AAP-M, ASD 5/11/2016 164 3300078744 curatus Q92887 1244 ABCC2 Homo sapiens 9606 Feature/sequence variant G921S; Altered transporter activity; dbSNP:rs41318029. VAR_070608 rs41318029 Y Y ECO:0000269 PubMed:22290738 UniProtKB N ver_2 AAP, AAP-M, ASD 5/11/2016 164 3300078745 curatus P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM), extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and numerous other drugs. Different alleles are known, including CYP2D6*1 (PubMed:15768052), CYP2D6*2 (PubMed:25469868), CYP2D6*6B/6C (PubMed:7868129), CYP2D6*7 also known CYP2D6E (PubMed:7845481), CYP2D6*9 also known CYP2D6C (PubMed:1844820), CYP2D6*10 also known CYP2D6J (PubMed:8287064, PubMed:25469868), CYP2D6*12 (PubMed:8655150), CYP2D6*14 (PubMed:10064570), CYP2D6*17 also known CYP2D6Z (PubMed:8971426), CYP2D6*41B (PubMed:15768052), CYP2D6*45A (PubMed:15768052), CYP2D6*45B (PubMed:15768052), CYP2D6*46 (PubMed:15768052), CYP2D6*87 (PubMed:25469868), CYP2D6*88 (PubMed:25469868), CYP2D6*89 (PubMed:25469868), CYP2D6*90 (PubMed:25469868), CYP2D6*91 (PubMed:25469868), CYP2D6*93 (PubMed:25469868), C CYP2D6*94 (PubMed:25469868), CYP2D6*97 (PubMed:25469868) and CYP2D6*98 (PubMed:25469868). Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional (PubMed:15768052). Y Y ECO:0000269 PubMed:10064570 PubMed:15768052 PubMed:16352597 PubMed:1844820 PubMed:25469868 PubMed:7845481 PubMed:7868129 PubMed:8655150 PubMed:8971426 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 181 3300078882 curatus P05177 1544 CYP1A2 Homo sapiens 9606 Comment/polymorphism The CYP1A2*1F allele which is quite common (40 to 50%) is due to a substitution of a base in the non-coding region of the CYP1A2 gene and has the effect of decreasing the enzyme inducibility. Individuals who are homozygous for the CYP1A2*1F allele are 'slow' caffeine metabolizers. Thus for these individual increased intake of caffeine seems to be associated with a concomitant increase in the risk of non-fatal myocardial infraction (MI). Y Y ECO:0000269 PubMed:16522833 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 174 3300079008 curatus Q02928 1579 CYP4A11 Homo sapiens 9606 Comment/polymorphism CYP4A11v seems to be a rare allelic variant of CYP4A11, it seems to be unstable and not to metabolize lauric acid. Y Y UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 153 3300079121 curatus P33261 1557 CYP2C19 Homo sapiens 9606 Comment/polymorphism Genetic variation in CYP2C19 is responsible for poor drug metabolism [MIM:609535]. Individuals can be characterized as either extensive metabolizers (EM) or poor metabolizers (PM). The PM phenotype is inherited in an autosomal recessive manner, with the EM phenotype comprising both homozygous dominant and heteroyzgote genotypes. There are marked interracial differences in the frequency of this polymorphism. Poor metabolizers represent 2-5% of Caucasians, 13-23% of Asian populations, and as many as 38-79% of individuals of some of the islands of Polynesia and Micronesia. Different alleles of CYP2C19 are known: CYP2C19*1A CYP2C19*1B, CYP2C19*1C, CYP2C19*2A (CYP2C19m1 or CYP2C19m1A), CYP2C19*2B (CYP2C19m1B), CYP2C19*2C (CYP2C19*21), CYP2C19*3A (CYP2C19m2), CYP2C19*3B (CYP2C19*20), CYP2C19*4 (CYP2C19m3), CYP2C19*5A (CYP2C19m4), CYP2C19*5B, CYP2C19*6, CYP2C19*7, CYP2C19*8, CYP2C19*9, CYP2C19*10, CYP2C19*11 CYP2C19*12, CYP2C19*13, CYP2C19*14 CYP2C19*15, CYP2C19*16, CYP2C19*18, CYP2C19*19. Defective CYP2C19*2 and CYP2C19*3 alleles are characterized by a splice mutation and a stop codon, respectively, and account for most of the PM alleles. The sequence shown is that of allele CYP2C19*1B. Y Y ECO:0000269 PubMed:12464799 UniProtKB N ver_2 AAP, DGA, ASD 5/11/2016 158 3300079127 curatus Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations. Y Y ECO:0000269 PubMed:16644682 UniProtKB N ver_2 Actual term would be 'fasting glucose concentrations' but no ontology term found. AAP 3300079288 curatus Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations. Y Y ECO:0000269 PubMed:16644682 UniProtKB N ver_2 Actual term would be 'fasting glucose concentrations' but no ontology term found AAP 3300079289 curatus Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations. Y Y ECO:0000269 PubMed:16644682 UniProtKB N ver_2 Actual term would be 'fasting glucose concentrations' but no ontology term found AAP 3300079290