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 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 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 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 full length AAP, DGA 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 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 full length AAP, DGA 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 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 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 full length AAP, DGA 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 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 full length AAP, DGA 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 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 2/6/2013 143 1100000505 curatus P78329 8529 CYP4F2 Homo sapiens 9606 Comment/alternative products/isoform P78329-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA 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 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 full length AAP, DGA 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 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 11/28/2012 125 1100000801 curatus P07203 2876 GPX1 Homo sapiens 9606 Comment/alternative products/isoform P07203-1;Isoform 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP, DGA 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 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 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 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 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 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 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 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 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 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 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 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 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 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 6/26/2013 124 1100000898 Faith O00154 11332 ACOT7 Homo sapiens 9606 Comment/alternative products/isoform O00154-5;Isoform 5;hBACHc VSP_000151 Y Y UniProtKB AAP 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 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 6/26/2013 124 1100000902 Faith O14734 10005 ACOT8 Homo sapiens 9606 Comment/alternative products/isoform O14734-1; Isoform 1 Y Y UniProt-derived full 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 full length AAP 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 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 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 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 full length; subcellular localization AAP 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 subcellular localization AAP 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 AAP 11/28/2012 121 1100000911 Faith Q9UKU0 23305 ACSL6 Homo sapiens 9606 Comment/alternative products/isoform Q9UKU0-4;Isoform 4 Y Y UniProtKB AAP 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 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 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 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 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 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 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 (doesn't exist in UniProtKB) AAP, DGA 11/28/2012 139 1100000928 Mike O15296 247 ALOX15B Homo sapiens 9606 Comment/alternative products/isoform O15296-1;Isoform A Y Y ECO:0000311 UniProtKB full 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 VSP_003142 Y Y ECO:0000311 UniProtKB 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 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 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 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 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 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 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 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 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 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 full length AAP 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 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 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 AAP, DGA 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 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 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 1 Y Y UniProt-derived full length (doesn't exist in UniProtKB) 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 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 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 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 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 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 Y Y UniProt-derived full length (doesn't exist in UniProtKB) AAP 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 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 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 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 AAP, DGA 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 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 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 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 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 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 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 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 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 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 full length AAP, DGA 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 Reviewed by Faith AAP, DGA 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 full length AAP 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 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 11/28/2012 105 1100000998 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-1;Isoform 1 Y Y ECO:0000311 UniProtKB full length AAP 2/6/2013 135 1100001000 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-3;Isoform 3 VSP_045106 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 135 1100001001 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Comment/alternative products/isoform P15428-4;Isoform 4 VSP_045107 VSP_045108 Y Y ECO:0000311 UniProtKB AAP 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 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 full length AAP 11/28/2012 128 1100001005 Faith Q05469 3991 LIPE Homo sapiens 9606 Comment/alternative products/isoform Q05469-2;Isoform 2 VSP_017116 Y Y ECO:0000311 UniProtKB AAP, DGA 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 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 full length AAP 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 AAP 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 AAP 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 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 full length AAP 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 full length AAP 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 AAP 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 full length AAP 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 AAP 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 AAP 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 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 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 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 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 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 UniProt-derived full 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 full length AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 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 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 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 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 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 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 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 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 AAP 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 AAP 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 AAP 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 full length AAP 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 AAP 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 AAP 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 AAP 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 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 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 full length AAP 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 AAP 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 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 full length AAP 1/9/2013 125 1100001087 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-1;Isoform Long Y Y ECO:0000311 UniProtKB full length AAP, DGA 2/6/2013 151 1100001088 Rose P23219 5742 PTGS1 Homo sapiens 9606 Comment/alternative products/isoform P23219-2;Isoform Short VSP_004673 Y Y ECO:0000311 UniProtKB AAP, DGA 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 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 full length AAP 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 AAP 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 AAP 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 full length AAP, DGA 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 AAP, DGA 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 2/6/2013 147 1100001097 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site Q580A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP, DGA 5/1/2013 139 3300005940 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site T581A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP, DGA 5/1/2013 139 3300005941 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S585A; No effect. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP, DGA 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:0000006 PubMed:15260484 UniProtKB AAP, DGA 5/1/2013 139 3300005943 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site S604A; Increases estradiol glucuronide transport. Y Y ECO:0000006 PubMed:15260484 UniProtKB AAP, DGA 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:0000006 PubMed:15260484 UniProtKB AAP, DGA 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:0000006 PubMed:11469806 UniProtKB AAP, DGA 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:0000006 PubMed:11469806 UniProtKB AAP, DGA 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:0000006 PubMed:11469806 UniProtKB AAP, DGA 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:0000006 PubMed:15208328 UniProtKB AAP, DGA 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:0000006 PubMed:15208328 UniProtKB AAP, DGA 5/1/2013 139 3300005950 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089{ALNQ}; Decreases resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP, DGA 5/1/2013 139 3300005951 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089D; No effect. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP, DGA 5/1/2013 139 3300005952 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site E1089K; Abolishes resistance to anthracyclines. Y Y ECO:0000006 PubMed:11278596 UniProtKB AAP, DGA 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:0000006 PubMed:15208328 UniProtKB AAP, DGA 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:0000006 PubMed:16230346 UniProtKB AAP, DGA 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:0000006 PubMed:16230346 UniProtKB AAP, DGA 5/1/2013 139 3300005956 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1141R; Reduced transport of glutathione. Y Y ECO:0000006 PubMed:16230346 UniProtKB AAP, DGA 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:0000006 PubMed:16230346 UniProtKB AAP, DGA 5/1/2013 139 3300005958 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site W1246{AFY}; Impairs estradiol glucuronide transport. Y Y ECO:0000006 PubMed:11278867 UniProtKB AAP, DGA 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:0000006 PubMed:11278867 UniProtKB AAP, DGA 5/1/2013 139 3300005960 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site K1333L; Impairs leukotriene C4 transport. Y Y ECO:0000006 PubMed:11469806 UniProtKB AAP, DGA 5/1/2013 139 3300005961 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site DE1454-1455LL; Impairs leukotriene C4 transport. Y Y UniProtKB AAP, DGA 5/1/2013 139 3300005962 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/mutagenesis site DELL; Impairs leukotriene C4 transport. Y Y UniProtKB AAP, DGA 5/1/2013 139 3300005963 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant C43S; In dbSNP:rs41395947. VAR_013317 rs41395947 Y Y ECO:0000006 PubMed:11266082 UniProtKB AAP, DGA 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:0000006 PubMed:11266082 UniProtKB AAP, DGA 5/1/2013 139 3300005965 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant M117T; VAR_013319 Y Y ECO:0000006 PubMed:1360704 PubMed:9344662 PubMed:11139250 UniProtKB AAP, DGA 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:0000006 PubMed:11721885 PubMed:18987736 UniProtKB AAP, DGA 5/1/2013 139 3300005967 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R633Q; In dbSNP:rs112282109. VAR_011488 rs112282109 Y Y UniProtKB AAP, DGA 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:0000006 PubMed:11721885 PubMed:10835642 submission: PubMed:10811882 UniProtKB AAP, DGA 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:0000006 PubMed:11266082 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:11266082 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 5/1/2013 139 3300005974 Rose P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant S1512L; VAR_013323 Y Y ECO:0000006 PubMed:11139250 UniProtKB AAP, DGA 5/1/2013 139 3300005975 Faith P33527 4363 ABCC1 Homo sapiens 9606 Feature/sequence variant R633Q; VAR_011488 Y Y ECO:0000006 PubMed:10835642 UniProtKB AAP, DGA 5/1/2013 139 3300005976 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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:0000006 PubMed:9661885 PubMed:12105214 UniProtKB AAP 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 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 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 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 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 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:0000006 PubMed:18300232 UniProtKB AAP 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:0000006 PubMed:18300232 UniProtKB AAP 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:0000006 PubMed:18300232 UniProtKB AAP 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:0000006 PubMed:18300232 UniProtKB AAP 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 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:0000006 PubMed:18300232 UniProtKB AAP 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 UniProtKB AAP 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 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:0000311 UniProtKB AAP, DGA 11/28/2012 141 3300006017 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant 85; In 3KTD. VAR_007497 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 141 3300006018 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A301P; In 3KTD; 5% normal activity. VAR_007503 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP, DGA 11/28/2012 141 3300006020 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A333P; In 3KTD; no activity. VAR_007505 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP, DGA 11/28/2012 141 3300006022 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant A380T; In 3KTD; 7% normal activity. VAR_007507 Y Y ECO:0000006 PubMed:1715688 UniProtKB AAP, DGA 11/28/2012 141 3300006024 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G152A; In 3KTD. VAR_007499 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 141 3300006026 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G183R; In 3KTD; no activity. VAR_007501 Y Y ECO:0000006 PubMed:1346617 UniProtKB AAP, DGA 11/28/2012 141 3300006028 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant G379V; In 3KTD. VAR_007506 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 141 3300006030 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant I312T; In 3KTD; 10% activity. VAR_007504 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP, DGA 11/28/2012 141 3300006032 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N158D; In 3KTD; no activity. VAR_007500 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP, DGA 11/28/2012 141 3300006034 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant N93S; In 3KTD; 10% activity. VAR_007498 Y Y ECO:0000006 PubMed:9744475 UniProtKB AAP, DGA 11/28/2012 141 3300006036 Rose/Faith P24752 38 ACAT1 Homo sapiens 9606 Feature/sequence variant T297M; In 3KTD; 10% normal activity. VAR_007502 Y Y ECO:0000006 PubMed:7728148 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB 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 UniProtKB AAP 5/1/2013 113 3300006066 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site N50A; Reduced activity. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 5/29/2013 101 3300006067 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site H56A; Decreases affinity for substrate. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 5/29/2013 101 3300006068 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65A; Loss of activity. Y Y ECO:0000006 PubMed:16934754 PubMed:19170545 UniProtKB AAP 5/29/2013 101 3300006069 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site D65{EN}; Reduced activity. Y Y ECO:0000006 PubMed:16934754 PubMed:19170545 UniProtKB AAP 5/29/2013 101 3300006070 Faith Q9NPJ3 55856 ACOT13 Homo sapiens 9606 Feature/mutagenesis site S83A; Reduced activity. Y Y ECO:0000006 PubMed:19170545 UniProtKB AAP 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:0000006 PubMed:10944470 PubMed:14702039 submission: PubMed:15489334 UniProtKB 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 UniProtKB 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 UniProtKB 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:0000006 PubMed:15489334 UniProtKB 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB Major isoform. AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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:0000006 PubMed:9177793 PubMed:11707336 UniProtKB AAP 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:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 131 3300006093 Mike O60488 2182 ACSL4 Homo sapiens 9606 Feature/sequence variant R570S; In MRX63. VAR_013180 Y Y ECO:0000006 PubMed:11889465 UniProtKB AAP 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 UniProtKB AAP 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 AAP 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 AAP 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:0000006 PubMed:16959974 UniProtKB AAP 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:0000006 PubMed:16959974 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 6/26/2013 124 3300006113 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant 140; In CGL1. VAR_017326 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 3300006117 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant A239V; In CGL1. VAR_017325 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 3300006119 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant G136R; In CGL1. VAR_017328 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 3300006121 Mike O15120 10555 AGPAT2 Homo sapiens 9606 Feature/sequence variant L228P; In CGL1. VAR_017327 Y Y ECO:0000006 PubMed:11967537 UniProtKB AAP 1/9/2013 119 3300006123 Katie Q9NUQ2 55326 AGPAT5 Homo sapiens 9606 Feature/sequence variant Y77C; In dbSNP:rs17077958. VAR_022696 rs17077958 Y Y ECO:0000311 UniProtKB AAP 1/9/2013 97 3300006126 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site D44N; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP, DGA 11/28/2012 157 3300006127 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site H111N; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP, DGA 11/28/2012 157 3300006128 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site K78M; Reduced enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP, DGA 11/28/2012 157 3300006129 Mike P15121 231 AKR1B1 Homo sapiens 9606 Feature/mutagenesis site Y49F; Complete loss of enzymatic activity. Y Y ECO:0000006 PubMed:8245005 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:9927279 UniProtKB AAP 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:0000006 PubMed:7650035 PubMed:9927279 PubMed:8274401 UniProtKB AAP 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:0000006 PubMed:10557352 PubMed:7650035 PubMed:9415401 PubMed:10622721 PubMed:8274401 PubMed:7626489 PubMed:7788527 UniProtKB AAP 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 AAP 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 AAP 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 AAP 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 AAP 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:0000006 PubMed:2217179 submission: PubMed:15489334 PubMed:15308583 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: PubMed:2377602 PubMed:2244907 UniProtKB AAP, DGA 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 AAP, DGA 1/9/2013 143 3300006147 Rose P18054 239 ALOX12 Homo sapiens 9606 Feature/sequence variant A298T; VAR_004279 Y Y ECO:0000311 UniProtKB AAP, DGA 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 AAP 11/28/2012 116 3300006149 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant H578Q; In NCIE. VAR_015174 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 116 3300006150 Mike O75342 242 ALOX12B Homo sapiens 9606 Feature/sequence variant L426P; In NCIE. VAR_015173 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 116 3300006152 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/mutagenesis site M418V; Catalyzes 15- and 12-lipoxygenation. Y Y ECO:0000006 PubMed:1944593 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:15489334 UniProtKB AAP, DGA 11/28/2012 139 3300006158 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant T560M; In dbSNP:rs34210653. VAR_035039 rs34210653 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 139 3300006159 Mike P16050 246 ALOX15 Homo sapiens 9606 Feature/sequence variant V239M; In dbSNP:rs3892408. VAR_035037 rs3892408 Y Y ECO:0000311 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:11839751 PubMed:9177185 PubMed:11350124 PubMed:15489334 UniProtKB 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 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:0000006 PubMed:11839751 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB AAP 11/28/2012 125 3300006168 Faith O15296 247 ALOX15B Homo sapiens 9606 Feature/splice variant O15296-4;Isoform D;15-LOX2sv-a;Position 401-429:Missing;In isoform B and isoform D. VSP_003142 Y Y UniProtKB AAP 11/28/2012 125 3300006169 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site D359N; No loss of activity. Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 143 3300006170 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site E377Q; No activity. Y Y ECO:0000006 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006171 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H363{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 UniProtKB AAP, DGA 11/28/2012 143 3300006172 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H368{SNA}; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006173 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H373{SN}; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006174 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006175 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H391A; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006176 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400{SN}; Still some substantial activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 11/28/2012 143 3300006177 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H400A; No activity. Y Y ECO:0000006 PubMed:1939225 PubMed:1540191 UniProtKB AAP, DGA 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 AAP, DGA 11/28/2012 143 3300006179 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site H551{NA}; No activity. Y Y ECO:0000006 PubMed:1540191 UniProtKB AAP, DGA 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:0000006 PubMed:18978352 UniProtKB AAP, DGA 11/28/2012 143 3300006181 Mike P09917 240 ALOX5 Homo sapiens 9606 Feature/mutagenesis site S524A; Prevents phosphorylation by PKA. Y Y ECO:0000006 PubMed:15280375 UniProtKB AAP, DGA 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:0000006 PubMed:15308583 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 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:0000006 PubMed:17600184 UniProtKB AAP, DGA 11/28/2012 113 3300006192 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant R396S; In NCIE. VAR_015175 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 104 3300006193 Katie/Rose Q9BYJ1 59344 ALOXE3 Homo sapiens 9606 Feature/sequence variant V500F; In NCIE. VAR_015176 Y Y ECO:0000006 PubMed:11773004 UniProtKB AAP 11/28/2012 104 3300006195 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C235A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 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:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 3300006199 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site D328A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 3300006200 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site H362A; Abolishes activity. Y Y ECO:0000006 PubMed:12810727 PubMed:12239217 UniProtKB AAP 5/1/2013 102 3300006201 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site C372A; Retains activity. Y Y UniProtKB AAP 5/1/2013 102 3300006202 Faith Q14032 570 BAAT Homo sapiens 9606 Feature/mutagenesis site Q417K; Translocation to peroxisomes. Y Y ECO:0000006 PubMed:12810727 UniProtKB AAP 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:0000006 submission: submission: PubMed:15489334 UniProtKB AAP 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:0000006 PubMed:12704386 UniProtKB AAP 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:0000006 PubMed:17344335 UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 PubMed:15537833 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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 AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 PubMed:15643613 PubMed:1722803 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:15643613 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:15643613 PubMed:8895751 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:15618738 UniProtKB AAP, DGA 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:0000006 PubMed:10739168 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:11295847 UniProtKB AAP, DGA 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:0000006 submission: PubMed:15469410 PubMed:15643613 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:15618738 PubMed:16959974 UniProtKB AAP, DGA 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:0000006 PubMed:11295847 UniProtKB AAP, DGA 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:0000006 PubMed:15618738 UniProtKB AAP, DGA 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:0000006 PubMed:15618738 UniProtKB AAP, DGA 1/9/2013 152 3300006230 Mike 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:0000311 UniProtKB leaving this intact to show the original annotation AAP, DGA 11/28/2012 140 3300006231 Mike P05177 1544 CYP1A2 Homo sapiens 9606 Feature/sequence variant S18C; In dbSNP:rs17861152. VAR_023196 rs17861152 Y Y ECO:0000006 PubMed:15469410 PubMed:15643613 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 submission: UniProtKB AAP, DGA 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:0000006 PubMed:14725854 PubMed:15469410 PubMed:11295848 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:14563787 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: PubMed:14563787 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP, DGA 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:0000006 PubMed:9884316 UniProtKB AAP, DGA 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:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP, DGA 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:0000006 PubMed:14563787 UniProtKB AAP, DGA 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:0000006 PubMed:14563787 UniProtKB AAP, DGA 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:0000006 PubMed:14725854 PubMed:11295848 UniProtKB AAP, DGA 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:0000006 PubMed:15770072 UniProtKB AAP, DGA 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:0000006 PubMed:15770072 UniProtKB AAP, DGA 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:0000006 PubMed:15770072 UniProtKB AAP, DGA 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:0000006 PubMed:14563787 UniProtKB AAP, DGA 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:0000006 PubMed:14563787 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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:0000006 PubMed:10655546 PubMed:11527932 PubMed:11980847 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: submission: PubMed:11854439 UniProtKB AAP 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:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier AAP 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:0000006 PubMed:10426814 PubMed:10655546 PubMed:11527932 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 UniProtKB Variant has mixed effects on enzyme activity, did not change qualifier AAP 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:0000006 PubMed:10426814 PubMed:9497261 PubMed:10655546 PubMed:11527932 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:10739169 PubMed:9823305 UniProtKB Normal -> decreased based on progesterone hydroxylation activity (larger magnitude of effect) AAP 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 AAP 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:0000006 PubMed:10655546 PubMed:12036985 PubMed:14635112 PubMed:12525557 PubMed:15342693 PubMed:15475877 PubMed:16688110 submission: PubMed:11854439 PubMed:9823305 submission: UniProtKB AAP 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:0000006 PubMed:9463332 PubMed:10655546 UniProtKB AAP 11/28/2012 148 3300006265 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R368H; In GLC3A and glaucoma; digenic early-onset; this mutation may act as a modifier of MYOC mutant phenotype; dbSNP:rs28936414. VAR_016034 rs28936414 Y Y ECO:0000006 PubMed:10655546 PubMed:11774072 PubMed:11980847 PubMed:12036985 PubMed:15475877 PubMed:16490498 PubMed:16735994 PubMed:16688110 UniProtKB AAP 11/28/2012 148 3300006267 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:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 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:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:11980847 PubMed:16490498 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 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:0000006 PubMed:9463332 PubMed:9497261 PubMed:10655546 PubMed:16735994 UniProtKB AAP 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 AAP 11/28/2012 148 3300006275 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB AAP 11/28/2012 148 3300006276 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A443G; In GLC3A and POAG; allele CYP1B1*7; unproven pathogenicity; dbSNP:rs4986888. VAR_018774 rs4986888 Y Y ECO:0000006 PubMed:12036985 PubMed:15342693 PubMed:16862072 PubMed:11854439 UniProtKB AAP 11/28/2012 148 3300006278 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G365W; In GLC3A; allele CYP1B1*18; dbSNP:rs55771538. VAR_001245 rs55771538 Y Y ECO:0000006 PubMed:9497261 UniProtKB AAP 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:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB AAP 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:0000006 PubMed:9497261 PubMed:10227395 PubMed:12036985 PubMed:14635112 PubMed:15342693 PubMed:16735994 UniProtKB AAP 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:0000006 PubMed:9497261 PubMed:15342693 PubMed:15475877 UniProtKB AAP 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:0000006 PubMed:9497261 PubMed:12036985 PubMed:15475877 UniProtKB AAP 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:0000006 PubMed:9497261 UniProtKB AAP 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:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB AAP 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:0000006 PubMed:11980847 PubMed:14635112 PubMed:15342693 PubMed:15475877 PubMed:16735994 PubMed:18470941 PubMed:16688110 PubMed:16862072 UniProtKB AAP 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:0000006 PubMed:11527932 UniProtKB AAP 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 AAP 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:0000006 PubMed:15342693 PubMed:16735994 PubMed:18470941 PubMed:16862072 UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 11/28/2012 148 3300006301 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 269-271; In GLC3A and POAG. VAR_054246 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300006302 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 269-271; In GLC3A and POAG. VAR_054246 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300006304 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 355-358; In GLC3A. VAR_054252 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 148 3300006306 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant 343; In GLC3A; reduces enzymatic activity and also the abundance of the enzyme. VAR_054250 Y Y ECO:0000006 PubMed:16735994 PubMed:18470941 UniProtKB AAP 11/28/2012 148 3300006308 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A115P; In GLC3A. VAR_054230 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 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:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006312 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330F; In GLC3A; requires 2 nucleotide substitutions; uncertain pathogenicity. VAR_054248 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 3300006314 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A330S; Associated with ocular hypertension susceptibility. VAR_054249 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006316 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant A388T; In GLC3A. VAR_054254 Y Y ECO:0000006 PubMed:16490498 UniProtKB AAP 11/28/2012 148 3300006318 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D192V; In GLC3A. VAR_054238 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 3300006320 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant D530G; In POAG. VAR_054268 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 3300006322 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant E499G; In GLC3A. VAR_054264 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 3300006324 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant F445C; In GLC3A. VAR_054262 Y Y ECO:0000006 PubMed:14640115 UniProtKB AAP 11/28/2012 148 3300006326 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G184S; VAR_054236 Y Y ECO:0000006 PubMed:11980847 UniProtKB AAP 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:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 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:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 3300006331 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant G466D; In GLC3A. VAR_054263 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 3300006333 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant I399S; In GLC3A. VAR_054257 Y Y ECO:0000006 PubMed:14635112 UniProtKB AAP 11/28/2012 148 3300006335 Katie/Rose Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L345F; In POAG. VAR_054251 Y Y ECO:0000006 PubMed:11774072 UniProtKB AAP 11/28/2012 148 3300006337 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant L77P; In GLC3A. VAR_054229 Y Y ECO:0000006 PubMed:10655546 PubMed:15475877 UniProtKB AAP 11/28/2012 148 3300006339 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant M132R; In GLC3A. VAR_054231 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 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:0000006 PubMed:18470941 UniProtKB AAP 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:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 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:0000006 PubMed:14635112 PubMed:15342693 UniProtKB AAP 11/28/2012 148 3300006347 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P193L; In GLC3A. VAR_054239 Y Y ECO:0000006 PubMed:11980847 PubMed:15475877 UniProtKB AAP 11/28/2012 148 3300006349 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant P52L; VAR_054228 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006351 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144H; VAR_054232 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006352 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144P; In GLC3A. VAR_054233 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 3300006353 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant Q144R; In GLC3A. VAR_054234 Y Y ECO:0000006 PubMed:14640115 UniProtKB AAP 11/28/2012 148 3300006355 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R145W; In POAG. VAR_054235 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006357 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390C; In GLC3A. VAR_054255 Y Y ECO:0000006 PubMed:15475877 PubMed:15255109 UniProtKB AAP 11/28/2012 148 3300006359 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R390S; In GLC3A. VAR_054256 Y Y ECO:0000006 PubMed:10655546 PubMed:14635112 UniProtKB AAP 11/28/2012 148 3300006361 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant R444Q; In GLC3A. VAR_054261 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 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:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 3300006365 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S215I; In GLC3A. VAR_054242 Y Y ECO:0000006 PubMed:12525557 UniProtKB AAP 11/28/2012 148 3300006367 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S239R; In GLC3A. VAR_054245 Y Y ECO:0000006 PubMed:15475877 UniProtKB AAP 11/28/2012 148 3300006369 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S28W; In POAG. VAR_054227 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006371 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant S515L; In POAG; uncertain pathogenicity. VAR_054265 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 11/28/2012 148 3300006373 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V320L; In GLC3A. VAR_054247 Y Y ECO:0000006 PubMed:11527932 UniProtKB AAP 11/28/2012 148 3300006375 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V364M; In GLC3A. VAR_054253 Y Y ECO:0000006 PubMed:11184479 PubMed:11527932 PubMed:12525557 UniProtKB AAP 11/28/2012 148 3300006377 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V409F; In POAG. VAR_054258 Y Y ECO:0000006 PubMed:16862072 UniProtKB AAP 11/28/2012 148 3300006379 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V422G; VAR_054259 Y Y ECO:0000006 PubMed:16490498 UniProtKB AAP 11/28/2012 148 3300006381 Katie Q16678 1545 CYP1B1 Homo sapiens 9606 Feature/sequence variant V518A; VAR_054266 Y Y ECO:0000006 PubMed:16688110 UniProtKB AAP 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:0000006 PubMed:9497261 PubMed:16688110 UniProtKB AAP 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:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:15469410 submission: UniProtKB AAP 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:0000006 submission: PubMed:15469410 UniProtKB AAP 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:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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 AAP 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:0000006 submission: UniProtKB AAP 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:0000006 PubMed:15190123 UniProtKB AAP 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:0000006 PubMed:15190123 UniProtKB AAP 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:0000006 PubMed:15190123 UniProtKB AAP 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:0000006 PubMed:15190123 UniProtKB AAP 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:0000006 PubMed:15190123 UniProtKB AAP 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:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 submission: PubMed:11243870 UniProtKB AAP 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:0000006 PubMed:12721789 submission: UniProtKB AAP 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:0000006 PubMed:11470993 PubMed:12642465 UniProtKB AAP 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:0000006 submission: PubMed:11470993 PubMed:12642465 PubMed:12721789 PubMed:14551287 PubMed:15469410 UniProtKB AAP 11/28/2012 143 3300006402 Rose P20813 1555 CYP2B6 Homo sapiens 9606 Feature/sequence variant K139E; In allele CYP2B6*8 and allele CYP2B6*13. VAR_016948 Y Y ECO:0000006 PubMed:15190123 PubMed:14551287 UniProtKB AAP 11/28/2012 143 3300006403 Rose P33260 1562 CYP2C18 Homo sapiens 9606 Feature/sequence variant T385M; In dbSNP:rs2281891. VAR_001254 rs2281891 Y Y ECO:0000006 PubMed:2009263 PubMed:8333835 UniProtKB AAP 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:0000006 submission: PubMed:9732415 UniProtKB AAP, DGA 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:0000006 PubMed:12464799 submission: UniProtKB AAP, DGA 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:0000006 PubMed:12464799 submission: UniProtKB AAP, DGA 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:0000006 PubMed:12464799 submission: PubMed:15469410 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 submission: PubMed:16141610 PubMed:15469410 submission: UniProtKB AAP, DGA 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:0000006 PubMed:10411572 UniProtKB AAP, DGA 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:0000006 PubMed:12464799 UniProtKB AAP, DGA 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:0000006 PubMed:9103550 PubMed:10022751 UniProtKB AAP, DGA 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:0000006 PubMed:12464799 UniProtKB AAP, DGA 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:0000006 PubMed:12464799 UniProtKB AAP, DGA 11/28/2012 125 3300006418 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant A161P; VAR_024084 Y Y ECO:0000006 PubMed:16141610 UniProtKB AAP, DGA 11/28/2012 125 3300006419 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R132Q; In allele CYP2C19*6; loss of activity. VAR_008358 Y Y ECO:0000006 PubMed:9732415 UniProtKB AAP, DGA 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:0000006 PubMed:16141610 UniProtKB AAP, DGA 11/28/2012 125 3300006421 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant R442C; In allele CYP2C19*16; lowered catalytic activity. VAR_021275 Y Y ECO:0000006 PubMed:15499191 UniProtKB AAP, DGA 11/28/2012 125 3300006422 Rose P33261 1557 CYP2C19 Homo sapiens 9606 Feature/sequence variant S51G; In allele CYP2C19*19. VAR_024083 Y Y ECO:0000006 PubMed:16141610 UniProtKB AAP, DGA 11/28/2012 125 3300006423 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K399R; In allele CYP2C8*3; dbSNP:rs10509681. VAR_012240 rs10509681 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:11668219 PubMed:12429347 PubMed:15469410 PubMed:2216732 UniProtKB AAP, DGA 11/28/2012 150 3300006424 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I264M; In allele CYP2C8*4; dbSNP:rs1058930. VAR_011754 rs1058930 Y Y ECO:0000006 submission: PubMed:12429347 PubMed:15469410 PubMed:3500169 PubMed:2009263 UniProtKB AAP, DGA 11/28/2012 150 3300006425 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant R139K; In allele CYP2C8*3; dbSNP:rs11572080. VAR_012238 rs11572080 Y Y ECO:0000006 PubMed:14702039 submission: PubMed:2729895 PubMed:11668219 PubMed:12429347 PubMed:15469410 UniProtKB AAP, DGA 11/28/2012 150 3300006426 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I244V; In dbSNP:rs11572102. VAR_018958 rs11572102 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 11/28/2012 150 3300006427 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant I269F; In allele CYP2C8*2; only found in African-Americans; dbSNP:rs11572103. VAR_012239 rs11572103 Y Y ECO:0000006 submission: PubMed:11668219 PubMed:12429347 PubMed:15469410 UniProtKB AAP, DGA 11/28/2012 150 3300006428 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant E154D; In clone MP-12. VAR_001250 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP, DGA 11/28/2012 150 3300006429 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant H411L; In clone MP-20. VAR_001253 Y Y ECO:0000006 PubMed:7574697 PubMed:3196692 UniProtKB AAP, DGA 11/28/2012 150 3300006430 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant K249R; In clone MP-12. VAR_001252 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP, DGA 11/28/2012 150 3300006431 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant L390S; VAR_016947 Y Y ECO:0000006 PubMed:12429347 UniProtKB AAP, DGA 11/28/2012 150 3300006432 Mike P10632 1558 CYP2C8 Homo sapiens 9606 Feature/sequence variant N193K; In MP-20. VAR_001251 Y Y ECO:0000006 PubMed:3196692 UniProtKB AAP, DGA 11/28/2012 150 3300006433 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant Y358C; In dbSNP:rs1057909. VAR_008344 rs1057909 Y Y ECO:0000006 PubMed:9110362 PubMed:3032244 PubMed:3196692 UniProtKB AAP, DGA 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:0000006 submission: PubMed:8946475 PubMed:9110362 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:2827463 PubMed:3697070 submission: PubMed:8946475 PubMed:9110362 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 submission: PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:11926893 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:11455026 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:10739176 UniProtKB AAP, DGA 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:0000006 submission: PubMed:15469410 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 1/9/2013 152 3300006447 Mike P11712 1559 CYP2C9 Homo sapiens 9606 Feature/sequence variant G417D; VAR_008346 Y Y ECO:0000006 PubMed:9110362 PubMed:3032244 PubMed:3196692 UniProtKB AAP, DGA 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 AAP, DGA 1/9/2013 152 3300006449 Mike/Rose P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J, allele CYP2D6*17 as CYP2D6Z. Y Y ECO:0000311 UniProtKB nothing to map (Rose- kept allele info) AAP, DGA 1/9/2013 146 3300006450 Mike/Rose P10635 1565 CYP2D6 Homo sapiens 9606 Comment/polymorphism Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and Thr-486) are functional. Y Y ECO:0000311 UniProtKB nothing to map (Rose- kept allele info) AAP, DGA 1/9/2013 146 3300006451 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A300G; In dbSNP:rs1058170. VAR_045680 rs1058170 Y Y ECO:0000311 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:15469410 PubMed:8287064 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:15768052 PubMed:8287064 PubMed:10591208 PubMed:15489334 UniProtKB AAP, DGA 1/9/2013 146 3300006457 Mike 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; dbSNP:rs16947. VAR_008340 rs16947 Y Y ECO:0000006 PubMed:15469410 PubMed:15768052 PubMed:10591208 PubMed:15489334 UniProtKB AAP, DGA 1/9/2013 146 3300006458 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant L231P; In dbSNP:rs17002853. VAR_045679 rs17002853 Y Y ECO:0000311 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:15469410 PubMed:15768052 submission: UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:8971426 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 PubMed:15768052 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:8655150 UniProtKB AAP, DGA 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:0000006 PubMed:7868129 UniProtKB AAP, DGA 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:0000006 PubMed:7845481 UniProtKB AAP, DGA 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:0000006 PubMed:15469410 UniProtKB AAP, DGA 1/9/2013 146 3300006473 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant 281; In allele CYP2D6*9. VAR_008347 Y Y ECO:0000006 PubMed:1844820 UniProtKB AAP, DGA 1/9/2013 146 3300006474 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant A85V; In allele CYP2D6*23. VAR_008369 Y Y ECO:0000311 UniProtKB AAP, DGA 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 AAP, DGA 1/9/2013 146 3300006476 Mike P10635 1565 CYP2D6 Homo sapiens 9606 Feature/sequence variant E418K; VAR_024724 Y Y ECO:0000006 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:10064570 UniProtKB should be ""debrisoquine""; contact UniProt to fix typo. AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:15469410 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:9058590 UniProtKB AAP, DGA 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:0000006 PubMed:9918138 PubMed:15469410 UniProtKB AAP, DGA 1/9/2013 144 3300006489 Mike P05181 1571 CYP2E1 Homo sapiens 9606 Feature/sequence variant R76H; In allele CYP2E1*2; reduced activity. VAR_008360 Y Y ECO:0000006 PubMed:9058590 UniProtKB AAP, DGA 1/9/2013 144 3300006490 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant R49S; In dbSNP:rs11572190. VAR_029159 rs11572190 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP, DGA 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:0000006 PubMed:11901223 UniProtKB AAP, DGA 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:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP, DGA 11/28/2012 121 3300006496 Faith P51589 1573 CYP2J2 Homo sapiens 9606 Feature/sequence variant I192N; In allele CYP2J2*4; significantly reduced metabolism of arachidonic acid only. VAR_014319 Y Y ECO:0000006 PubMed:11901223 UniProtKB Checked ref. Normal -> decreased. AAP, DGA 11/28/2012 121 3300006497 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:0000006 PubMed:11901223 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:3464943 PubMed:2463251 UniProtKB AAP, DGA 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:0000006 PubMed:11875366 PubMed:15469410 UniProtKB AAP, DGA 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:0000006 PubMed:11875366 PubMed:11470997 UniProtKB AAP, DGA 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:0000006 PubMed:11875366 UniProtKB AAP, DGA 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:0000006 PubMed:11714865 PubMed:15469410 UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 PubMed:3460094 UniProtKB AAP, DGA 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:0000006 PubMed:11875366 PubMed:11714865 UniProtKB AAP, DGA 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:0000006 PubMed:11470997 UniProtKB AAP, DGA 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:0000006 PubMed:11714865 PubMed:10668853 UniProtKB AAP, DGA 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:0000006 PubMed:11714865 UniProtKB AAP, DGA 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:0000006 PubMed:11714865 UniProtKB AAP, DGA 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:0000006 PubMed:10668853 UniProtKB AAP, DGA 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:0000006 PubMed:11181494 UniProtKB AAP, DGA 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:0000006 PubMed:11181494 UniProtKB AAP, DGA 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:0000006 PubMed:11470997 UniProtKB AAP, DGA 11/28/2012 154 3300006517 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant D174H; In allele CYP3A4*10. VAR_011603 Y Y ECO:0000006 PubMed:11875366 PubMed:11470997 PubMed:15469410 UniProtKB AAP, DGA 11/28/2012 154 3300006518 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant R130Q; In allele CYP3A4*8. VAR_011600 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP, DGA 11/28/2012 154 3300006519 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant T363M; In allele CYP3A4*11; unstable form. VAR_011606 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP, DGA 11/28/2012 154 3300006520 Mike P08684 1576 CYP3A4 Homo sapiens 9606 Feature/sequence variant V170I; In allele CYP3A4*9. VAR_011602 Y Y ECO:0000006 PubMed:11470997 UniProtKB AAP, DGA 11/28/2012 154 3300006521 Faith 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 ECO:0000311 UniProtKB moved from All topics sheet AAP, DGA 11/28/2012 121 3300006522 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site E321A; Loss of covalent heme binding. Y Y ECO:0000006 PubMed:11821421 UniProtKB AAP, DGA 11/28/2012 121 3300006523 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/mutagenesis site G130S; Loss of activity. Y Y ECO:0000006 PubMed:15611369 UniProtKB Decreased -> abolished AAP, DGA 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:0000006 PubMed:15611369 PubMed:8363569 PubMed:15895287 PubMed:8274222 submission: UniProtKB May want to change to Decrease AAP, DGA 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 AAP, DGA 11/28/2012 121 3300006527 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant NGIHLRLRRLPNPCEDKDQLMESTCVSGGSLTLVKTRTSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAVPQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS; In CYP4A11V. VAR_001257 Y Y ECO:0000311 UniProtKB AAP, DGA 11/28/2012 121 3300006528 Faith Q02928 1579 CYP4A11 Homo sapiens 9606 Feature/sequence variant S353G; VAR_044377 Y Y ECO:0000006 PubMed:8363569 PubMed:15895287 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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:0000006 PubMed:10860550 UniProtKB 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:0000006 PubMed:10860550 UniProtKB 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:0000006 PubMed:15611369 UniProtKB 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:0000006 PubMed:15611369 UniProtKB 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:0000006 PubMed:15611369 PubMed:16806293 UniProtKB 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 AAP 11/28/2012 75 3300006541 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant K276T; In allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15. VAR_044358 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 3300006542 Faith Q5TCH4 284541 CYP4A22 Homo sapiens 9606 Feature/sequence variant R11C; In allele CYP4A22*2 and CYP4A22*3. VAR_044349 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 3300006543 Faith 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. VAR_044354 Y Y ECO:0000006 PubMed:16806293 UniProtKB AAP 11/28/2012 75 3300006544 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 UniProtKB AAP 11/28/2012 75 3300006545 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant D284N; In dbSNP:rs1060463. VAR_060267 rs1060463 Y Y ECO:0000311 UniProtKB AAP 11/28/2012 112 3300006546 Katie Q9HBI6 57834 CYP4F11 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs57519667. VAR_060265 rs57519667 Y Y ECO:0000311 UniProtKB 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:0000006 PubMed:10964514 PubMed:15489334 UniProtKB 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 AAP, DGA 11/28/2012 125 3300006549 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant V433M; In dbSNP:rs2108622. VAR_013119 rs2108622 Y Y ECO:0000006 submission: PubMed:15489334 UniProtKB AAP, DGA 11/28/2012 125 3300006550 Faith P78329 8529 CYP4F2 Homo sapiens 9606 Feature/sequence variant S7Y; In dbSNP:rs3093104. VAR_013116 rs3093104 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: PubMed:15489334 UniProtKB AAP, DGA 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:0000006 submission: PubMed:14702039 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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 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 AAP 11/28/2012 84 3300006556 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant F59L; In LI3. VAR_037441 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 3300006557 Faith Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H435Y; In LI3. VAR_037444 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 3300006559 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant H436D; In LI3. VAR_037445 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 3300006561 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R243H; In LI3. VAR_037442 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 3300006563 Faith/Rose Q6NT55 126410 CYP4F22 Homo sapiens 9606 Feature/sequence variant R372W; In LI3. VAR_037443 Y Y ECO:0000006 PubMed:16436457 UniProtKB AAP 11/28/2012 84 3300006565 Faith Q08477 4051 CYP4F3 Homo sapiens 9606 Feature/sequence variant A269D; In dbSNP:rs1805040. VAR_001258 rs1805040 Y Y ECO:0000006 PubMed:8486631 PubMed:9539102 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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 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 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:0000006 PubMed:16112640 UniProtKB 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 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:0000006 PubMed:16112640 UniProtKB AAP 2/6/2013 106 3300006574 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141{DC}; Complete loss of activity. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300006575 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/mutagenesis site E141Q; Partial loss of activity. Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300006576 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351K; In dbSNP:rs1126464. VAR_061375 rs1126464 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300006577 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant E351Q; In dbSNP:rs1126464. VAR_061376 rs1126464 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 143 3300006578 Katie/Rose P16444 1800 DPEP1 Homo sapiens 9606 Feature/sequence variant R246H; In a colorectal cancer sample; somatic mutation. VAR_036496 Y Y ECO:0000006 PubMed:16959974 UniProtKB AAP 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 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:0000006 submission: PubMed:14702039 submission: PubMed:15489334 PubMed:12975309 UniProtKB 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:0000006 PubMed:15489334 UniProtKB AAP 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 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:0000006 PubMed:21164107 UniProtKB AAP, DGA 1/9/2013 131 3300006589 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/mutagenesis site D9A; Loss of phosphatase activity. Y Y ECO:0000006 PubMed:12574508 UniProtKB AAP, DGA 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:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP, DGA 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:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP, DGA 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:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP, DGA 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:0000006 PubMed:12869654 PubMed:15196990 submission: PubMed:8342951 PubMed:10862610 UniProtKB AAP, DGA 1/9/2013 131 3300006594 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant E470G; No effect on phosphatase activity and epoxyde hydrolase activity. VAR_055397 Y Y ECO:0000006 PubMed:12869654 PubMed:15196990 submission: UniProtKB AAP, DGA 1/9/2013 131 3300006595 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant G21A; VAR_055392 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 1/9/2013 131 3300006596 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant M369V; VAR_055396 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 1/9/2013 131 3300006597 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant P225L; VAR_055395 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 1/9/2013 131 3300006598 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R403RR; VAR_022613 Y Y ECO:0000006 PubMed:10862610 UniProtKB AAP, DGA 1/9/2013 131 3300006599 Rose P34913 2053 EPHX2 Homo sapiens 9606 Feature/sequence variant R52Q; VAR_055393 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 1/9/2013 131 3300006600 Faith O60427 3992 FADS1 Homo sapiens 9606 Feature/sequence variant P329S; In dbSNP:rs17856235. VAR_035340 rs17856235 Y Y ECO:0000006 PubMed:15489334 UniProtKB AAP 5/1/2013 108 3300006601 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site C454A; No effect on activity. Y Y ECO:0000006 PubMed:7759490 UniProtKB AAP, DGA 11/28/2012 148 3300006613 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site D422A; Reduces enzyme activity by 90%. Y Y ECO:0000006 PubMed:7759490 UniProtKB AAP, DGA 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:0000006 PubMed:7759490 UniProtKB AAP, DGA 11/28/2012 148 3300006615 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E102Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006616 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site E108Q; Reduces enzyme activity by 98%. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006617 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H383A; Reduces enzyme activity by 66%. Y Y ECO:0000006 PubMed:8827453 UniProtKB AAP, DGA 11/28/2012 148 3300006618 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site H505A; Reduces enzyme activity by 90%. Y Y ECO:0000006 PubMed:8827453 UniProtKB AAP, DGA 11/28/2012 148 3300006619 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site K100N; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006620 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107{QH}; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006621 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R107K; Reduces enzyme activity by 99%. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006622 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R112Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006623 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R139Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006624 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R147Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006625 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site R150Q; No effect on activity. Y Y ECO:0000006 PubMed:8095045 UniProtKB AAP, DGA 11/28/2012 148 3300006626 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S385A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP, DGA 11/28/2012 148 3300006627 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S413A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP, DGA 11/28/2012 148 3300006628 Rose P19440 2678 GGT1 Homo sapiens 9606 Feature/mutagenesis site S425A; No effect on activity. Y Y ECO:0000006 PubMed:7673200 UniProtKB AAP, DGA 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:0000006 PubMed:7673200 UniProtKB AAP, DGA 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:0000006 PubMed:7673200 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:2904146 PubMed:2907498 PubMed:2563599 PubMed:2568315 PubMed:1968061 PubMed:1378736 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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:0000006 PubMed:1676842 PubMed:10591208 UniProtKB 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 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 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 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:0000006 PubMed:14702039 submission: PubMed:15489334 UniProtKB 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:0000006 PubMed:14702039 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB AAP 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:0000006 submission: PubMed:15331559 PubMed:10220143 PubMed:15247771 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 2/6/2013 155 3300006660 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant A194T; VAR_020915 Y Y ECO:0000006 submission: UniProtKB AAP, DGA 2/6/2013 155 3300006661 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant deletion of alanine at position 8 VAR_020914 Y Y ECO:0000006 PubMed:3658677 PubMed:3697069 PubMed:2955287 PubMed:2307470 PubMed:1556108 PubMed:12496980 PubMed:15331559 UniProtKB AAP, DGA 2/6/2013 155 3300006662 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant deletion of alanines at positions 7 and 8 VAR_020913 Y Y ECO:0000311 UniProtKB AAP, DGA 2/6/2013 155 3300006663 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 7-8; VAR_020913 Y Y UniProtKB AAP, DGA 2/6/2013 155 3300006664 Mike P07203 2876 GPX1 Homo sapiens 9606 Feature/sequence variant 8; VAR_020914 Y Y ECO:0000006 PubMed:3658677 PubMed:3697069 PubMed:2955287 PubMed:2307470 PubMed:1556108 PubMed:12496980 PubMed:15331559 UniProtKB AAP, DGA 2/6/2013 155 3300006665 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant R146C; In dbSNP:rs17880492. VAR_020917 rs17880492 Y Y ECO:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 PubMed:10806356 UniProtKB AAP 2/6/2013 127 3300006668 Rose P18283 2877 GPX2 Homo sapiens 9606 Feature/sequence variant I176M; VAR_003616 Y Y ECO:0000311 UniProtKB AAP 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:0000006 submission: UniProtKB AAP, DGA 1/9/2013 138 3300006670 Katie P36969 2879 GPX4 Homo sapiens 9606 Feature/mutagenesis site U73A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:17630701 UniProtKB Reviewed by Faith Decreased -> abolished AAP, DGA 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:0000006 PubMed:17630701 UniProtKB Reviewed by Faith. Added missing PATO qualifier based on text parsed. AAP, DGA 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:0000006 submission: PubMed:12606444 UniProtKB Reviewed by Faith AAP, DGA 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 Reviewed by Faith AAP, DGA 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 UniProtKB AAP, DGA 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 AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 2/6/2013 84 3300006689 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148{EHN}; Reduced affinity for NAD and prostaglandin E2. Y Y ECO:0000006 PubMed:16828555 UniProtKB AAP 2/6/2013 135 3300006690 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Q148A; Loss of activity. Y Y ECO:0000006 PubMed:16828555 UniProtKB AAP 2/6/2013 135 3300006691 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/mutagenesis site Y151A; Loss of activity. Y Y ECO:0000006 PubMed:2025296 UniProtKB AAP 2/6/2013 135 3300006692 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant A140P; In COA; inactive. VAR_046209 Y Y ECO:0000006 PubMed:18500342 UniProtKB Normal -> abolished AAP 2/6/2013 135 3300006693 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant S193P; In ICNC. VAR_060792 Y Y ECO:0000006 PubMed:18805827 UniProtKB AAP 2/6/2013 135 3300006695 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant S193P; In ICNC. VAR_060792 Y Y ECO:0000006 PubMed:18805827 UniProtKB AAP 2/6/2013 135 3300006697 Katie/Rose P15428 3248 HPGD Homo sapiens 9606 Feature/sequence variant Y217C; VAR_006972 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 135 3300006699 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 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:0000006 PubMed:12627223 UniProtKB AAP 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:0000006 PubMed:12627223 UniProtKB AAP 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:0000006 PubMed:12627223 UniProtKB AAP 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:0000006 PubMed:14636062 UniProtKB 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:0000006 PubMed:14636062 UniProtKB 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:0000006 PubMed:14636062 UniProtKB 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:0000006 PubMed:14636062 UniProtKB 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:0000006 PubMed:14636062 UniProtKB 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:0000006 PubMed:8432868 PubMed:8318557 UniProtKB 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:0000006 PubMed:8432868 UniProtKB 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:0000006 PubMed:8432868 PubMed:12957688 UniProtKB 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:0000006 PubMed:8432868 UniProtKB 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:0000006 PubMed:12957688 PubMed:12966036 PubMed:16874701 UniProtKB AAP, DGA 11/28/2012 141 3300006720 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant A165T; VAR_039029 Y Y ECO:0000006 PubMed:15994445 UniProtKB AAP, DGA 11/28/2012 141 3300006721 Mike/Rose 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:0000311 UniProtKB 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:0000006 PubMed:12957688 UniProtKB 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:0000006 PubMed:8807342 UniProtKB 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:0000006 PubMed:7711728 UniProtKB 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:0000006 PubMed:16216249 UniProtKB 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:0000006 PubMed:15994445 UniProtKB 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 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:0000006 PubMed:21901787 UniProtKB 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:0000006 PubMed:15994445 PubMed:16874701 UniProtKB 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:0000006 PubMed:1516702 UniProtKB 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:0000006 PubMed:1681161 PubMed:1859405 UniProtKB 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:0000006 PubMed:1681161 UniProtKB 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:0000006 PubMed:9007616 UniProtKB 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:0000006 PubMed:9741700 UniProtKB 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:0000006 PubMed:1571050 UniProtKB 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:0000006 PubMed:8620346 UniProtKB 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:0000006 PubMed:9261271 UniProtKB 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:0000006 PubMed:8620346 UniProtKB 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:0000006 PubMed:15994445 UniProtKB 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:0000006 PubMed:7607641 PubMed:16216249 UniProtKB 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:0000006 PubMed:2370048 PubMed:15994445 UniProtKB AAP, DGA 11/28/2012 141 3300006760 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant R182C; VAR_004261 Y Y ECO:0000006 PubMed:8432868 PubMed:8318557 UniProtKB 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:0000006 PubMed:21901787 UniProtKB 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:0000006 PubMed:15994445 UniProtKB AAP, DGA 11/28/2012 141 3300006764 Mike/Rose 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:0000006 PubMed:21901787 UniProtKB 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:0000006 PubMed:21901787 UniProtKB AAP, DGA 11/28/2012 141 3300006767 Mike P04180 3931 LCAT Homo sapiens 9606 Feature/sequence variant S115P; VAR_039025 Y Y ECO:0000006 PubMed:15994445 UniProtKB 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:0000006 PubMed:15994445 UniProtKB 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:0000006 PubMed:1737840 UniProtKB 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:0000006 PubMed:11423760 PubMed:15994445 UniProtKB 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:0000006 PubMed:11423760 PubMed:15994445 UniProtKB 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:0000006 PubMed:15994445 UniProtKB 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:0000006 PubMed:1737840 UniProtKB 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:0000006 PubMed:9741700 UniProtKB 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:0000006 PubMed:21901787 UniProtKB 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:0000006 PubMed:15994445 PubMed:16051254 UniProtKB 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:0000006 PubMed:15994445 UniProtKB 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:0000006 PubMed:21901787 UniProtKB 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 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:0000006 PubMed:1718995 PubMed:14702039 PubMed:15489334 UniProtKB 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:0000006 PubMed:8725147 UniProtKB 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:0000006 PubMed:15489334 UniProtKB 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 AAP 11/28/2012 128 3300006796 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129P; In CESD. VAR_004248 Y Y ECO:0000006 PubMed:9633819 UniProtKB AAP 11/28/2012 128 3300006797 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129P; In CESD. VAR_004248 Y Y ECO:0000006 PubMed:9633819 UniProtKB AAP 11/28/2012 128 3300006799 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129R; In CESD. VAR_004249 Y Y ECO:0000006 PubMed:9633819 UniProtKB AAP 11/28/2012 128 3300006801 Rose P38571 3988 LIPA Homo sapiens 9606 Feature/sequence variant H129R; In CESD. VAR_004249 Y Y ECO:0000006 PubMed:9633819 UniProtKB 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:0000006 PubMed:8146180 UniProtKB 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:0000006 PubMed:8146180 UniProtKB 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 11/28/2012 118 3300006821 Faith/Rose Q05469 3991 LIPE Homo sapiens 9606 Feature/sequence variant P146Q; In a breast cancer sample; somatic mutation. VAR_036539 Y Y ECO:0000006 PubMed:16959974 UniProtKB breast cancer sample AAP, DGA 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 UniProtKB AAP, DGA 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:0000006 PubMed:12966036 UniProtKB AAP, DGA 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 AAP, DGA 11/28/2012 117 3300006826 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant G96S; VAR_017027 Y Y ECO:0000006 PubMed:12966036 UniProtKB AAP, DGA 11/28/2012 117 3300006827 Katie Q9Y5X9 9388 LIPG Homo sapiens 9606 Feature/sequence variant R312H; VAR_017029 Y Y ECO:0000006 PubMed:12966036 UniProtKB AAP, DGA 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 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 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 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 UniProtKB AAP, DGA 5/1/2013 101 3300006836 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D372N; No loss of activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006850 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site D374N; No loss of activity. Y Y ECO:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:18804029 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006854 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E272{AD}; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 3300006856 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297A; Loss of both activities. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 3300006857 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E297K; Loss of both activities. Y Y ECO:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 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:0000006 PubMed:18804029 PubMed:1881903 PubMed:1516710 PubMed:1357660 UniProtKB AAP 2/6/2013 161 3300006859 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site E319A; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006861 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G269A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006862 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site G270A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006864 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H296Y; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006865 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site H300L; Complete loss of activity. Y Y ECO:0000006 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006868 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site M271L; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 2/6/2013 161 3300006869 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site N273A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 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:0000006 PubMed:11917124 PubMed:1881903 UniProtKB AAP 2/6/2013 161 3300006872 Mike P09960 4048 LTA4H Homo sapiens 9606 Feature/mutagenesis site Q137A; No loss of activity. Y Y ECO:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:1881903 PubMed:11675384 UniProtKB AAP 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:0000006 PubMed:15078870 PubMed:1881903 UniProtKB AAP 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 AAP 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 UniProtKB AAP 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 UniProtKB AAP 2/6/2013 161 3300006879 Rose P09960 4048 LTA4H Homo sapiens 9606 Feature/splice variant P09960-3;Isoform 3;Position 1-53:MPEIVDTCSLASPASVCRTKHLHLRCSVDFTRRTLTGTAALTVQSQEDNLRSL->MLPQRNLSKRQVPTMHIPVKTRRLLAALK;In isoform 3. VSP_041107 Y Y UniProtKB AAP 2/6/2013 161 3300006880 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 UniProtKB AAP 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 UniProtKB AAP 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:0000006 PubMed:12077128 UniProtKB AAP, DGA 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:0000006 PubMed:12077128 UniProtKB induces resistance to desensitization by GRK6 AAP, DGA 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:0000006 submission: PubMed:15489334 UniProtKB AAP, DGA 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:0000006 PubMed:15489334 UniProtKB AAP, DGA 11/28/2012 116 3300006887 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site D207A; Kinase defective mutant, abolishes activity. Y Y ECO:0000006 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:21131586 UniProtKB AAP 11/28/2012 134 3300006889 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site K93R; Kinase defective mutant, abolishes activity. Y Y ECO:0000006 PubMed:14517288 UniProtKB AAP 11/28/2012 134 3300006890 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site S272A; Strong decrease in kinase activity. Y Y ECO:0000006 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:8846784 UniProtKB AAP 11/28/2012 134 3300006892 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T222A; Strong decrease in kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 11/28/2012 134 3300006896 Katie P49137 9261 MAPKAPK2 Homo sapiens 9606 Feature/mutagenesis site T334A; Slight decrease in kinase activity. Y Y ECO:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:14517288 PubMed:15014438 PubMed:8846784 UniProtKB AAP 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:0000006 PubMed:17344846 UniProtKB AAP 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:0000006 PubMed:17344846 UniProtKB AAP 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 UniProtKB AAP 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:0000006 PubMed:15489334 UniProtKB AAP 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 AAP 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 UniProtKB AAP 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 UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 PubMed:21044946 UniProtKB AAP 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:0000006 PubMed:21044946 UniProtKB AAP 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 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 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 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:0000006 PubMed:12606753 UniProtKB AAP 4/3/2013 92 3300006913 Faith P53816 11145 PLA2G16 Homo sapiens 9606 Feature/mutagenesis site H23A; No effect on PPP2R1A-binding. Y Y ECO:0000006 PubMed:17374643 UniProtKB 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:0000006 PubMed:17374643 UniProtKB 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 AAP 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 AAP 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 AAP 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: PubMed:10455175 PubMed:14702039 UniProtKB AAP 2/6/2013 115 3300006920 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H73R; VAR_055388 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 3300006921 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant H96R; VAR_055389 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 3300006922 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant Q65H; VAR_055387 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 3300006923 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121C; VAR_055390 Y Y ECO:0000006 submission: UniProtKB AAP 2/6/2013 115 3300006924 Katie Q9UNK4 26279 PLA2G2D Homo sapiens 9606 Feature/sequence variant R121L; VAR_055391 Y Y ECO:0000006 submission: UniProtKB AAP 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 UniProtKB AAP 11/28/2012 100 3300006926 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site H184Q; Loss of PGE2 synthesis. Y Y ECO:0000006 PubMed:12522102 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300006927 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N167S; Loss of glycosylation. Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 11/28/2012 110 3300006928 Katie Q9NZ20 50487 PLA2G3 Homo sapiens 9606 Feature/mutagenesis site N280S; Loss of glycosylation. Y Y ECO:0000006 PubMed:15863501 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:10713052 PubMed:15489334 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 3300006938 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C220A; No effect on phospholipase activity. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 3300006943 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site C726A; No effect on phospholipase activity. Y Y ECO:0000006 PubMed:8083230 UniProtKB AAP 11/28/2012 140 3300006944 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549A; Abolishes phospholipiase activity. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 3300006945 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549E; Reduces phospholipiase activity 2000-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 3300006946 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site D549N; Reduces phospholipiase activity 300-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 3300006947 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200{AH}; Abolishes phospholipase activity. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 11/28/2012 140 3300006948 Rose P47712 5321 PLA2G4A Homo sapiens 9606 Feature/mutagenesis site R200K; Reduces phospholipase activity 200-fold. Y Y ECO:0000006 PubMed:8702602 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8619991 PubMed:8702602 PubMed:8083230 UniProtKB AAP 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:0000006 PubMed:8381049 UniProtKB AAP 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:0000006 PubMed:8083230 UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: PubMed:1904318 PubMed:1869522 PubMed:15489334 UniProtKB AAP 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 AAP 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 AAP 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:0000006 PubMed:16959974 UniProtKB AAP 11/28/2012 140 3300006959 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site D615A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 3300006961 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site H417A; No effect. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 3300006962 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site R632A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 45 3300006963 Mike P0C869 100137049 PLA2G4B Homo sapiens 9606 Feature/mutagenesis site S335A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB 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:0000006 PubMed:14702039 UniProtKB 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 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 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 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 3300006974 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R402A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 3300006975 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site R54A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB AAP 11/28/2012 93 3300006976 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/mutagenesis site S82A; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:10085124 UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 PubMed:10085124 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB 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:0000006 submission: UniProtKB AAP 11/28/2012 93 3300006988 Katie Q9UP65 8605 PLA2G4C Homo sapiens 9606 Feature/sequence variant R430C; VAR_018423 Y Y ECO:0000006 submission: UniProtKB AAP 11/28/2012 93 3300006989 Faith Q86XP0 283748 PLA2G4D Homo sapiens 9606 Feature/sequence variant P275R; In dbSNP:rs11635685. VAR_057676 rs11635685 Y Y ECO:0000311 UniProtKB 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 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 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:0000006 PubMed:16213696 UniProtKB 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 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 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 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 UniProtKB 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 UniProtKB 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 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 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:0000006 PubMed:17974005 UniProtKB 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 AAP 11/28/2012 72 3300007003 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G45C; In FRFB. VAR_067343 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300007007 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G45C; In FRFB. VAR_067343 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300007009 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G49S; In FRFB. VAR_067344 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 11/28/2012 123 3300007011 Rose P39877 5322 PLA2G5 Homo sapiens 9606 Feature/sequence variant G49S; In FRFB. VAR_067344 Y Y ECO:0000006 PubMed:22137173 UniProtKB AAP 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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 AAP, DGA 1/9/2013 128 3300007020 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant 691; In NBIA2A. VAR_029374 Y Y ECO:0000006 PubMed:16783378 PubMed:17033970 UniProtKB AAP, DGA 1/9/2013 128 3300007021 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant K545T; In NBIA2B. VAR_029372 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP, DGA 1/9/2013 128 3300007023 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R632W; In NBIA2B. VAR_029373 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP, DGA 1/9/2013 128 3300007025 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R741Q; In PARK14. VAR_062530 Y Y ECO:0000006 PubMed:18570303 UniProtKB AAP, DGA 1/9/2013 128 3300007027 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant R747W; In PARK14. VAR_062531 Y Y ECO:0000006 PubMed:18570303 UniProtKB AAP, DGA 1/9/2013 128 3300007029 Mike O60733 8398 PLA2G6 Homo sapiens 9606 Feature/sequence variant V310E; In NBIA2A. VAR_029371 Y Y ECO:0000006 PubMed:16783378 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 UniProtKB AAP, DGA 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 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 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 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 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 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 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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 UniProtKB 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:0000006 PubMed:16239926 PubMed:16150821 UniProtKB AAP 6/26/2013 87 3300007053 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant P195L; In NLSDM. VAR_032995 Y Y ECO:0000006 PubMed:17187067 UniProtKB AAP 6/26/2013 87 3300007054 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Feature/sequence variant L219F; VAR_032996 Y Y ECO:0000006 PubMed:16644682 UniProtKB 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 UniProtKB 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:0000006 PubMed:16644682 submission: PubMed:15489334 UniProtKB 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 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:0000006 submission: UniProtKB AAP 1/9/2013 116 3300007062 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site D330A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 3300007063 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site E332A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 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:0000006 PubMed:20035740 UniProtKB AAP 1/9/2013 102 3300007065 Katie Q9Y5Y4 11251 PTGDR2 Homo sapiens 9606 Feature/mutagenesis site S331A; 45% increases internalization of PTGDR2. Y Y ECO:0000006 PubMed:20035740 UniProtKB AAP 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:0000006 PubMed:20035740 UniProtKB AAP 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:0000006 PubMed:9973380 PubMed:10036181 submission: submission: PubMed:15489334 UniProtKB AAP 1/9/2013 102 3300007068 Rose P41222 5730 PTGDS Homo sapiens 9606 Feature/mutagenesis site C65A; Loss of enzyme activity. Y Y ECO:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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:0000006 PubMed:20667974 UniProtKB 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 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:0000006 PubMed:8253813 submission: UniProtKB AAP 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 AAP 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 AAP 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 AAP 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 AAP 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 AAP 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 AAP 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 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 1/9/2013 131 3300007086 Faith P43115 5733 PTGER3 Homo sapiens 9606 Feature/splice variant P43115-5;Isoform EP3E;Position 360-390:IRYHTNNYASSSTSLPCQCSSTLMWSDHLER->MRKRRLREQLICSLRTLRYRGQLHIVGKYKPIVC;In isoform EP3E. VSP_001938 Y Y UniProtKB AAP 1/9/2013 131 3300007087 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 UniProtKB AAP 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 UniProtKB AAP 1/9/2013 131 3300007089 Mike O14684 9536 PTGES Homo sapiens 9606 Feature/mutagenesis site E66A; Reduces enzyme activity by 50%. Y Y ECO:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB 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:0000006 PubMed:18682561 UniProtKB AAP, DGA 2/6/2013 100 3300007096 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C110S; Loss of function. Y Y ECO:0000006 PubMed:12804604 UniProtKB AAP 2/6/2013 110 3300007097 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/mutagenesis site C113S; Does not strongly affect enzyme activity. Y Y ECO:0000006 PubMed:12804604 UniProtKB AAP 2/6/2013 110 3300007098 Katie Q9H7Z7 80142 PTGES2 Homo sapiens 9606 Feature/sequence variant R298H; In dbSNP:rs13283456. VAR_049494 rs13283456 Y Y ECO:0000311 UniProtKB AAP 2/6/2013 110 3300007099 Faith P43088 5737 PTGFR Homo sapiens 9606 Feature/splice variant P43088-2;Isoform 2;FP(S);Position 267-359:VTMANIGINGNHSLETCETTLFALRMATWNQILDPWVYILLRKAVLKNLYKLASQCCGVHVISLHIWELSSIKNSLKVAAISESPVAEKSAST->GYRIILNGKEKYKVYEEQSDFLHRLQWPTLE;In isoform 2. VSP_042025 Y Y UniProtKB AAP 1/9/2013 120 3300007111 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:0000006 PubMed:12488443 UniProtKB AAP 1/9/2013 125 3300007112 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C309S; No effect on palmitoylation level. Y Y ECO:0000006 PubMed:12488443 UniProtKB AAP 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:0000006 PubMed:12488443 UniProtKB AAP 1/9/2013 125 3300007114 Rose P43119 5739 PTGIR Homo sapiens 9606 Feature/mutagenesis site C383S; Abolishes isoprenylation. Y Y ECO:0000006 PubMed:11895442 UniProtKB AAP 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 AAP 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 AAP 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 AAP, DGA 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:0000006 PubMed:11281454 UniProtKB AAP, DGA 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:0000006 PubMed:11281454 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:11281454 UniProtKB AAP, DGA 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:0000006 PubMed:14702039 submission: PubMed:15489334 UniProtKB AAP 1/9/2013 125 3300007125 Rose P23219 5742 PTGS1 Homo sapiens 9606 Feature/mutagenesis site S529N; Abolishes cyclooxygenase activity. Y Y ECO:0000006 PubMed:1907252 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 PubMed:2512924 PubMed:1907252 PubMed:1734857 PubMed:1587858 PubMed:12192304 PubMed:14702039 submission: submission: PubMed:15489334 UniProtKB AAP, DGA 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:0000006 PubMed:12192304 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 submission: PubMed:15308583 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:15308583 UniProtKB AAP, DGA 2/6/2013 151 3300007137 Faith P23219 5742 PTGS1 Homo sapiens 9606 Feature/splice variant P23219-2;Isoform Short;Position 396-432:Missing;In isoform Short. VSP_004673 Y Y UniProtKB AAP, DGA 2/6/2013 151 3300007138 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C526S; Prevents activation by nitric oxid (NO). Y Y ECO:0000006 PubMed:16373578 UniProtKB AAP, DGA 2/6/2013 143 3300007139 Rose P35354 5743 PTGS2 Homo sapiens 9606 Feature/mutagenesis site C555S; Abolishes enzyme activity. Y Y ECO:0000006 PubMed:16373578 UniProtKB AAP, DGA 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:0000006 PubMed:16373578 UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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:0000006 submission: UniProtKB AAP, DGA 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 AAP, DGA 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:0000006 submission: PubMed:15308583 UniProtKB AAP, DGA 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:0000006 PubMed:10198260 submission: PubMed:14702039 submission: UniProtKB 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:0000006 PubMed:8407899 UniProtKB AAP 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 UniProtKB AAP 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 UniProtKB AAP 2/6/2013 124 3300007151 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site L291R; Suppresses antagonist binding. Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300007192 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site R295Q; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300007193 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299L; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 138 3300007194 Rose P21731 6915 TBXA2R Homo sapiens 9606 Feature/mutagenesis site W299R; Reduces antagonist binding. Y Y ECO:0000311 UniProtKB AAP, DGA 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:0000006 PubMed:8613548 PubMed:7929844 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:12721789 UniProtKB AAP, DGA 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:0000006 PubMed:10391209 PubMed:10391210 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 PubMed:10391209 PubMed:10391210 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 PubMed:10391209 PubMed:10391210 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:10391210 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 PubMed:10391210 UniProtKB AAP, DGA 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 AAP, DGA 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 AAP, DGA 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 AAP, DGA 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:0000006 PubMed:10391209 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 PubMed:10391209 UniProtKB AAP, DGA 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:0000006 PubMed:10391209 UniProtKB AAP, DGA 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:0000006 PubMed:11465543 PubMed:12721789 UniProtKB AAP, DGA 2/6/2013 147 3300007224 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant G481W; In GHDD. VAR_044389 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP, DGA 2/6/2013 147 3300007225 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L487P; In GHDD. VAR_044390 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP, DGA 2/6/2013 147 3300007227 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant L82P; In GHDD. VAR_044386 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP, DGA 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:0000006 PubMed:11465543 UniProtKB AAP, DGA 2/6/2013 147 3300007231 Rose/Faith P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R412Q; In GHDD. VAR_044388 Y Y ECO:0000006 PubMed:18264100 UniProtKB HDO term more general than OMIM. AAP, DGA 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:0000006 PubMed:11465543 UniProtKB AAP, DGA 2/6/2013 147 3300007234 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant R501Q; VAR_018380 Y Y ECO:0000006 PubMed:12721789 UniProtKB AAP, DGA 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:0000006 PubMed:16959974 UniProtKB AAP, DGA 2/6/2013 147 3300007236 Rose P24557 6916 TBXAS1 Homo sapiens 9606 Feature/sequence variant V124I; VAR_018378 Y Y ECO:0000006 PubMed:12721789 UniProtKB AAP, DGA 2/6/2013 147 3300007238 Rose 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:0000311 UniProtKB OMIM phenotype AAP, DGA 11/28/2012 125 3300007704 Mike 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. Y Y ECO:0000311 UniProtKB AAP, DGA 1/9/2013 146 3300007733 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. Y Y UniProtKB Actual term would be 'plasma free fatty acids', but no ontology term found. AAP 6/26/2013 87 3300008667 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. Y Y UniProtKB Actual term would be 'triglyceride levels', but no ontology term found. AAP 6/26/2013 87 3300008669 Faith Q96AD5 57104 PNPLA2 Homo sapiens 9606 Comment/polymorphism Genetic variations in PNPLA2 may be associated with plasma free fatty acids, triglycerides levels, and fasting glucose concentrations. Y Y UniProtKB Actual term would be 'fasting glucose concentrations' but no ontology term found. AAP 6/26/2013 87 3300008671