No paralogue variants have been mapped to residue 1293 for SCN5A.
| SCN5A | TNAWCWLDFLIVDVSLVSLVAN-T----LG>F<AEMGPIKSLRTLRALRPLRALSRFEGMRVV | 1323 |
| SCN1A | TNAWCWLDFLIVDVSLVSLTAN-A----LG>Y<SELGAIKSLRTLRALRPLRALSRFEGMRVV | 1336 |
| SCN2A | TNAWCWLDFLIVDVSLVSLTAN-A----LG>Y<SELGAIKSLRTLRALRPLRALSRFEGMRVV | 1326 |
| SCN3A | TNAWCWLDFLIVDVSLVSLVAN-A----LG>Y<SELGAIKSLRTLRALRPLRALSRFEGMRVV | 1324 |
| SCN4A | TNAWCWLDFLIVDVSIISLVAN-W----LG>Y<SELGPIKSLRTLRALRPLRALSRFEGMRVV | 1149 |
| SCN7A | SNGWYRLDFVVVIVFCLSLIGK-T----RE>-<-E---LKPLISMKFLRPLRVLSQFERMKVV | 1047 |
| SCN8A | TNAWCWLDFLIVAVSLVSLIAN-A----LG>Y<SELGAIKSLRTLRALRPLRALSRFEGMRVV | 1316 |
| SCN9A | TNAWCWLDFLIVDVSLVTLVAN-T----LG>Y<SDLGPIKSLRTLRALRPLRALSRFEGMRVV | 1299 |
| SCN10A | TNAWCWLDFLIVNISLISLTAK-I----LE>Y<SEVAPIKALRTLRALRPLRALSRFEGMRVV | 1270 |
| SCN11A | TSAWCCLDFIIVIVSVTTLI---------N>-<--LMELKSFRTLRALRPLRALSQFEGMKVV | 1167 |
| CACNA1A | RDLWNILDFIVVSGALVAFAFTGN----SK>G<KDINTIKSLRVLRVLRPLKTIKRLPKLKAV | 1366 |
| CACNA1B | RDLWNILDFIVVSGALVAFAFS-G----SK>G<KDINTIKSLRVLRVLRPLKTIKRLPKLKAV | 1272 |
| CACNA1C | RNYFNILDLLVVSVSLISF----G----IQ>S<SAINVVKILRVLRVLRPLRAINRAKGLKHV | 1018 |
| CACNA1D | RNYFNLLDMLVVGVSLVSF----G----IQ>S<SAISVVKILRVLRVLRPLRAINRAKGLKHV | 1024 |
| CACNA1E | RDLWNILDFVVVVGALVAFALANA-LGTNK>G<RDIKTIKSLRVLRVLRPLKTIKRLPKLKAV | 1278 |
| CACNA1F | RSWFNMLDLLVVSVSLISF----G----IH>S<SAISVVKILRVLRVLRPLRAINRAKGLKHV | 989 |
| CACNA1G | RSSWNVLDGLLVLISVIDILVS-MVSD-SG>T<KILGMLRVLRLLRTLRPLRVISRAQGLKLV | 1401 |
| CACNA1H | QSSWNLLDGLLVLVSLVDIVVA-MASA-GG>A<KILGVLRVLRLLRTLRPLRVISRAPGLKLV | 1419 |
| CACNA1I | RSSWNVLDGFLVFVSIIDIVVS-LASA-GG>A<KILGVLRVLRLLRTLRPLRVISRAPGLKLV | 1295 |
| CACNA1S | RNYFNMLDLLVVAVSLISM----G----LE>S<SAISVVKILRVLRVLRPLRAINRAKGLKHV | 917 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F1293S | c.3878T>C | Conflict | rs41311127 | SIFT: deleterious Polyphen: benign | |
| Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||
| Inherited Arrhythmia | BrS | Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm. 2004 1(5):600-7. 15851227 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| 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 | ||||
| Inherited Arrhythmia | BrS | The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children. Heart Rhythm. 2012 9(12):1986-92. doi: 10.1016/j.hrthm.2012.08.011. 22885917 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| Inherited Arrhythmia | BrS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | |||