No paralogue variants have been mapped to residue 1951 for SCN5A.
| SCN5A | ---------QAGSGLSEEDAPEREGL-IAY>V<M----------------------------- | 1952 |
| SCN1A | ---------NKIKG--GANLLIKEDM-IID>R<I----------------------------- | 1964 |
| SCN2A | ---------DKGKE--CDGTPIKEDT-LID>K<L----------------------------- | 1954 |
| SCN3A | ---------EAIKG--RIDLPIKQDM-IID>K<L----------------------------- | 1949 |
| SCN4A | ---------SHDGS--GDDAPEKEGL-LAN>T<M-SKMY---------------------GHE | 1783 |
| SCN7A | ---------DGDR----DVHATKEGA-YFD>K<A----------------------------- | 1672 |
| SCN8A | ----------------------KKTT-SNK>L<E----------------------------- | 1926 |
| SCN9A | ---------DGDRD---DDLLNKKDM-AFD>N<V----------------------------- | 1926 |
| SCN10A | ---------RAEEE---AASLPDEGF-VAF>T<A----------------------------- | 1899 |
| SCN11A | -----------------------NDL---->-<E----------------------------- | 1763 |
| CACNA1A | DRTPLMFQRMEPPS------PTQ------->E<G-GP-G-------QNALPS-TQLDPGGALM | 2019 |
| CACNA1B | ----QMGPVSLFHP------LKATLE-QT->Q<PAVLRGARVFLR-QKS--S-TSLSNGGAIQ | 1928 |
| CACNA1C | --------QRNALS-L-QAGLRTL-H-DIG>P<E-IRRA-------ISG----DLTAEEE-LD | 1680 |
| CACNA1D | --------KNTTIA-L-QAGLRTL-H-DIG>P<E-IRRA-------ISC----DLQDDEP-EE | 1689 |
| CACNA1E | -KNAPMFQRMEPSS------LPQ------->E<I-IA-N-------AKALPY-LQQDPVSGL- | 1929 |
| CACNA1F | --------PSTSSA-L-QAGLRSL-Q-DLG>P<E-MRQA-------LTC----DTEEEEE-EG | 1646 |
| CACNA1G | -----------SLA------LTD------->D<SLP--------DDMHTLLLSALESN-MQPH | 2024 |
| CACNA1H | -SCASLQIPLAVSS------PAR------->S<GEPLHALSPRGTARSPSLSRLLCRQ-EAVH | 2020 |
| CACNA1I | -LEDPTACPPGRKD------SKG------->E<LDP-----PEPMRVGDLGECFFPLS-STAV | 1914 |
| CACNA1S | --------KKDIVQ-I-QAGLRTI-EEEAA>P<E-ICRT-------VSG----DLAAEEE-LE | 1585 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V1951L | c.5851G>T | Conflict | rs41315493 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545 | ||
| 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 | |||
| Inherited Arrhythmia | LQTS | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | |||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Other Cardiac Phenotype | Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444 | ||||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| Inherited Arrhythmia | BrS | A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm. 2011 8(3):455-62. 21109022 | |||
| 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 | Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732 | |||
| Inherited Arrhythmia | BrS | 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 | BrS | An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991 | |||
| Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Inherited Arrhythmia | BrS | 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 | BrS | 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 | |||
| Unknown | Clinical profile and genetic basis of Brugada syndrome in the Chinese population. Hong Kong Med J. 2004 10(1):32-7. 14967853 | ||||
| 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 | ||||
| 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 | |||
| p.V1951M | c.5851G>A | Inherited Arrhythmia | BrS,AF | rs41315493 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | AF | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | ||
| Inherited Arrhythmia | BrS | Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J. 2011 52(1):27-31. 21321465 | |||
| 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 | |||