No paralogue variants have been mapped to residue 728 for SCN5A.
SCN5A | ECCPLWMSIKQGVKLVVMDPFTDLTITMCI>V<LNTLFMALEHYNMTSEFEEMLQVGNLVFTG | 758 |
SCN1A | DCSPYWLKVKHVVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTDHFNNVLTVGNLVFTG | 809 |
SCN2A | DCCKPWLKVKHLVNLVVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLSVGNLVFTG | 800 |
SCN3A | DCCDAWLKVKHLVNLIVMDPFVDLAITICI>V<LNTLFMAMEHYPMTEQFSSVLTVGNLVFTG | 801 |
SCN4A | NCCAPWLKFKNIIHLIVMDPFVDLGITICI>V<LNTLFMAMEHYPMTEHFDNVLTVGNLVFTG | 619 |
SCN7A | NCSPCWLKLKEFVHRIIMAPFTDLFLIICI>I<LNVCFLTLEHYPMSKQTNTLLNIGNLVFIG | 546 |
SCN8A | ECHPYWIKLKEIVNLIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTPQFEHVLAVGNLVFTG | 794 |
SCN9A | NCSPYWIKFKKCIYFIVMDPFVDLAITICI>V<LNTLFMAMEHHPMTEEFKNVLAIGNLVFTG | 774 |
SCN10A | DCCPMWVKLKTILFGLVTDPFAELTITLCI>V<VNTIFMAMEHHGMSPTFEAMLQIGNIVFTI | 706 |
SCN11A | NCCPQWLCVKKVLRTVMTDPFTELAITICI>I<INTVFLAMEHHKMEASFEKMLNIGNLVFTS | 618 |
CACNA1A | FFHKKERRMRFYIRRMVKTQAFYWTVLSLV>A<LNTLCVAIVHYNQPEWLSDFLYYAEFIFLG | 528 |
CACNA1B | YFRRKEKMFRFFIRRMVKAQSFYWVVLCVV>A<LNTLCVAMVHYNQPRRLTTTLYFAEFVFLG | 524 |
CACNA1C | YWRRWNRFCRRKCRAAVKSNVFYWLVIFLV>F<LNTLTIASEHYNQPNWLTEVQDTANKALLA | 565 |
CACNA1D | RWRRWNRFNRRRCRAAVKSVTFYWLVIVLV>F<LNTLTISSEHYNQPDWLTQIQDIANKVLLA | 584 |
CACNA1E | YFRHKERLLRISIRHMVKSQVFYWIVLSLV>A<LNTACVAIVHHNQPQWLTHLLYYAEFLFLG | 517 |
CACNA1F | RLRRANRVLRARCRRAVKSNACYWAVLLLV>F<LNTLTIASEHHGQPVWLTQIQEYANKVLLC | 570 |
CACNA1G | SVLAFWRLICDTFRKIVDSKYFGRGIMIAI>L<VNTLSMGIEYHEQPEELTNALEISNIVFTS | 784 |
CACNA1H | WMGRLWVTFSGKLRRIVDSKYFSRGIMMAI>L<VNTLSMGVEYHEQPEELTNALEISNIVFTS | 834 |
CACNA1I | LCGDVWRETRAKLRGIVDSKYFNRGIMMAI>L<VNTVSMGIEHHEQPEELTNILEICNVVFTS | 681 |
CACNA1S | HWRQWNRIFRWKCHDIVKSKVFYWLVILIV>A<LNTLSIASEHHNQPLWLTRLQDIANRVLLS | 473 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V728I | c.2182G>A | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | BrS | A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome. Clin Genet. 2013 83(6):530-8. doi: 10.1111/cge.12017. 22984773 |