No paralogue variants have been mapped to residue 1304 for SCN5A.
| SCN5A | VDVSLVSLVAN-T----LGFAEMGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI | 1334 |
| SCN1A | VDVSLVSLTAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI | 1347 |
| SCN2A | VDVSLVSLTAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI | 1337 |
| SCN3A | VDVSLVSLVAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI | 1335 |
| SCN4A | VDVSIISLVAN-W----LGYSELGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI | 1160 |
| SCN7A | VIVFCLSLIGK-T----RE--E---LKPLI>S<MKFLRPLRVLSQFERMKVVVRALIKTTLPT | 1058 |
| SCN8A | VAVSLVSLIAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI | 1327 |
| SCN9A | VDVSLVTLVAN-T----LGYSDLGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALIGAIPSI | 1310 |
| SCN10A | VNISLISLTAK-I----LEYSEVAPIKALR>T<LRALRPLRALSRFEGMRVVVDALVGAIPSI | 1281 |
| SCN11A | VIVSVTTLI---------N---LMELKSFR>T<LRALRPLRALSQFEGMKVVVNALIGAIPAI | 1178 |
| CACNA1A | VSGALVAFAFTGN----SKGKDINTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV | 1377 |
| CACNA1B | VSGALVAFAFS-G----SKGKDINTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV | 1283 |
| CACNA1C | VSVSLISF----G----IQSSAINVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI | 1029 |
| CACNA1D | VGVSLVSF----G----IQSSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI | 1035 |
| CACNA1E | VVGALVAFALANA-LGTNKGRDIKTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVTSLKNV | 1289 |
| CACNA1F | VSVSLISF----G----IHSSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI | 1000 |
| CACNA1G | VLISVIDILVS-MVSD-SGTKILGMLRVLR>L<LRTLRPLRVISRAQGLKLVVETLMSSLKPI | 1412 |
| CACNA1H | VLVSLVDIVVA-MASA-GGAKILGVLRVLR>L<LRTLRPLRVISRAPGLKLVVETLISSLRPI | 1430 |
| CACNA1I | VFVSIIDIVVS-LASA-GGAKILGVLRVLR>L<LRTLRPLRVISRAPGLKLVVETLISSLKPI | 1306 |
| CACNA1S | VAVSLISM----G----LESSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCMFVAISTI | 928 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1304M | c.3911C>T | Inherited Arrhythmia | LQTS,BrS | rs199473603 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet. 1999 86(5):470-6. 10508990 | ||
| Inherited Arrhythmia | LQTS | The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 2000 102(9):945-7. 10961955 | |||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76. 17210841 | |||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | AF | High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113 | |||
| Inherited Arrhythmia | LQTS | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Inherited Arrhythmia | LQTS | Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995 | |||
| Inherited Arrhythmia | BrS | A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia. Korean J Pediatr. 2014 57(8):374-8. doi: 10.3345/kjp.2014.57.8.374. 25210526 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| 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 | LQTS | 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 | |||