No paralogue variants have been mapped to residue 376 for SCN5A.
| SCN5A | ENPDHGYTSFDSFAWAFLALFRLMTQDCWE>R<LYQQTLRSAGKIY-MIFFMLVIFLGSFYLV | 405 |
| SCN1A | RNPNYGYTSFDTFSWAFLSLFRLMTQDFWE>N<LYQLTLRAAGKTY-MIFFVLVIFLGSFYLI | 415 |
| SCN2A | RNPNYGYTSFDTFSWAFLSLFRLMTQDFWE>N<LYQLTLRAAGKTY-MIFFVLVIFLGSFYLI | 417 |
| SCN3A | RNPNYGYTSFDTFSWAFLSLFRLMTQDYWE>N<LYQLTLRAAGKTY-MIFFVLVIFLGSFYLV | 416 |
| SCN4A | RNPNYGYTSYDTFSWAFLALFRLMTQDYWE>N<LFQLTLRAAGKTY-MIFFVVIIFLGSFYLI | 439 |
| SCN7A | INPDQGFTNFDSFGWALFALFRLMAQDYPE>V<LYHQILYASGKVY-MIFFVVVSFLFSFYMA | 386 |
| SCN8A | RNPNYGYTSFDTFSWAFLALFRLMTQDYWE>N<LYQLTLRAAGKTY-MIFFVLVIFVGSFYLV | 403 |
| SCN9A | RNPDYGYTSFDTFSWAFLALFRLMTQDYWE>N<LYQQTLRAAGKTY-MIFFVVVIFLGSFYLI | 394 |
| SCN10A | DNPDFNYTSFDSFAWAFLSLFRLMTQDSWE>R<LYQQTLRTSGKIY-MIFFVLVIFLGSFYLV | 389 |
| SCN11A | INPDYNYTNFDNFGWSFLAMFRLMTQDSWE>K<LYQQTLRTTGLYS-VFFFIVVIFLGSFYLI | 392 |
| CACNA1A | EGPNNGITQFDNILFAVLTVFQCITMEGWT>D<LLYNSNDASGNTWNWLYFIPLIIIGSFFML | 352 |
| CACNA1B | PGPNFGITNFDNILFAILTVFQCITMEGWT>D<ILYNTNDAAGNTWNWLYFIPLIIIGSFFML | 348 |
| CACNA1C | DGPKHGITNFDNFAFAMLTVFQCITMEGWT>D<VLYWVNDAVGRDWPWIYFVTLIIIGSFFVL | 397 |
| CACNA1D | VGPNGGITNFDNFAFAMLTVFQCITMEGWT>D<VLYWVNDAIGWEWPWVYFVSLIILGSFFVL | 398 |
| CACNA1E | IGPNDGITQFDNILFAVLTVFQCITMEGWT>T<VLYNTNDALGATWNWLYFIPLIIIGSFFVL | 343 |
| CACNA1F | PGPNGGITNFDNFFFAMLTVFQCVTMEGWT>D<VLYWMQDAMGYELPWVYFVSLVIFGSFFVL | 364 |
| CACNA1G | HNPFKGAINFDNIGYAWIAIFQVITLEGWV>D<IMYFVMDAHSF-YNFIYFILLIIVGSFFMI | 387 |
| CACNA1H | SNPHNGAINFDNIGYAWIAIFQVITLEGWV>D<IMYYVMDAHSF-YNFIYFILLIIVGSFFMI | 411 |
| CACNA1I | ANPHKGAINFDNIGYAWIVIFQVITLEGWV>E<IMYYVMDAHSF-YNFIYFILLIIVGSFFMI | 390 |
| CACNA1S | PGPNHGITHFDNFGFSMLTVYQCITMEGWT>D<VLYWVNDAIGNEWPWIYFVTLILLGSFFIL | 326 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R376C | c.1126C>T | Other Cardiac Phenotype | rs199473100 | SIFT: deleterious Polyphen: probably damaging | |
| 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 | ||||
| Other Cardiac Phenotype | Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete. Int J Cardiol. 2014 170(3):e63-5. doi: 10.1016/j.ijcard.2013.11.013. 24295898 | ||||
| p.R376H | c.1127G>A | Inherited Arrhythmia | BrS | rs199473101 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm. 2004 1(5):610-5. 15851228 | ||
| Inherited Arrhythmia | BrS | Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation. 2005 112(24):3680-7. 16344400 | |||
| Inherited Arrhythmia | BrS | 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 | |||
| Inherited Arrhythmia | BrS | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Inherited Arrhythmia | BrS | Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete. Int J Cardiol. 2014 170(3):e63-5. doi: 10.1016/j.ijcard.2013.11.013. 24295898 | |||