No paralogue variants have been mapped to residue 705 for SCN5A.
SCN5A | -----------WNR-LAQRYLIWECCPLWM>S<IKQGVKLVVMDPFTDLTITMCIVLNTLFMA | 735 |
SCN1A | -----------WYK-FSNIFLIWDCSPYWL>K<VKHVVNLVVMDPFVDLAITICIVLNTLFMA | 786 |
SCN2A | -----------WYK-FANMCLIWDCCKPWL>K<VKHLVNLVVMDPFVDLAITICIVLNTLFMA | 777 |
SCN3A | -----------WYR-FANVFLIWDCCDAWL>K<VKHLVNLIVMDPFVDLAITICIVLNTLFMA | 778 |
SCN4A | -----------WYK-CAHKVLIWNCCAPWL>K<FKNIIHLIVMDPFVDLGITICIVLNTLFMA | 596 |
SCN7A | -----------WYK-FAKTFLIWNCSPCWL>K<LKEFVHRIIMAPFTDLFLIICIILNVCFLT | 523 |
SCN8A | -----------WYK-FANTFLIWECHPYWI>K<LKEIVNLIVMDPFVDLAITICIVLNTLFMA | 771 |
SCN9A | -----------WYR-FAHKFLIWNCSPYWI>K<FKKCIYFIVMDPFVDLAITICIVLNTLFMA | 751 |
SCN10A | -----------LTS-LSQKYLIWDCCPMWV>K<LKTILFGLVTDPFAELTITLCIVVNTIFMA | 683 |
SCN11A | -----------GEN-LASKYLVWNCCPQWL>C<VKKVLRTVMTDPFTELAITICIIINTVFLA | 595 |
CACNA1A | -----------SIK-SAKLENSTFFHKKER>R<MRFYIRRMVKTQAFYWTVLSLVALNTLCVA | 505 |
CACNA1B | -----------SLK-SGKTESSSYFRRKEK>M<FRFFIRRMVKAQSFYWVVLCVVALNTLCVA | 501 |
CACNA1C | -----------AHR-ISKSKFSRYWRRWNR>F<CRRKCRAAVKSNVFYWLVIFLVFLNTLTIA | 542 |
CACNA1D | -----------GQA-ISKSKLSRRWRRWNR>F<NRRRCRAAVKSVTFYWLVIVLVFLNTLTIS | 561 |
CACNA1E | -----------SIK-SAKVDGVSYFRHKER>L<LRISIRHMVKSQVFYWIVLSLVALNTACVA | 494 |
CACNA1F | -----------LNK-IMKTRVCRRLRRANR>V<LRARCRRAVKSNACYWAVLLLVFLNTLTIA | 547 |
CACNA1G | --------------SLGPDAEPSSVLAFWR>L<ICDTFRKIVDSKYFGRGIMIAILVNTLSMG | 761 |
CACNA1H | G---PGSPQRRAQQRAAPGE-PGWMGRLWV>T<FSGKLRRIVDSKYFSRGIMMAILVNTLSMG | 811 |
CACNA1I | SSELG--KEEEEEE-QADGA-VWLCGDVWR>E<TRAKLRGIVDSKYFNRGIMMAILVNTVSMG | 658 |
CACNA1S | -----------LNK-I--IQFIRHWRQWNR>I<FRWKCHDIVKSKVFYWLVILIVALNTLSIA | 450 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S705F | c.2114C>T | Putative Benign | rs199473148 | SIFT: deleterious Polyphen: benign | |
Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Putative Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |