No paralogue variants have been mapped to residue 1787 for SCN5A.
SCN5A | IISFLIVVNMYIAIILENFSVATEESTEPL>S<EDDFDMFYEIWEKFDPEATQFIEYSVLSDF | 1817 |
SCN1A | IISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFMEFEKLSQF | 1831 |
SCN2A | IISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFIEFAKLSDF | 1821 |
SCN3A | IISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFIEFSKLSDF | 1816 |
SCN4A | IISFLIVVNMYIAIILENFNVATEESSEPL>G<EDDFEMFYETWEKFDPDATQFIAYSRLSDF | 1643 |
SCN7A | LISWLIIVNMYIVVVMEFLNIASKKKNKTL>S<EDDFRKFFQVWKRFDPDRTQYIDSSKLSDF | 1541 |
SCN8A | IISFLIVVNMYIAIILENFSVATEESADPL>S<EDDFETFYEIWEKFDPDATQFIEYCKLADF | 1811 |
SCN9A | IISFLVVVNMYIAVILENFSVATEESTEPL>S<EDDFEMFYEVWEKFDPDATQFIEFSKLSDF | 1794 |
SCN10A | IISFLIMVNMYIAVILENFNVATEESTEPL>S<EDDFDMFYETWEKFDPEATQFITFSALSDF | 1767 |
SCN11A | IISFLIVVNMYIAVILENFNTATEESEDPL>G<EDDFDIFYEVWEKFDPEATQFIKYSALSDF | 1649 |
CACNA1A | FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEYVRVWAEYDPAACGRIHYKDMYSL | 1855 |
CACNA1B | FLCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEFIRVWAEYDPAACGRISYNDMFEM | 1753 |
CACNA1C | MLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWAEYDPEAKGRIKHLDVVTL | 1520 |
CACNA1D | MLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWSEYDPEAKGRIKHLDVVTL | 1528 |
CACNA1E | FFCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEFVRVWAEYDRAACGRIHYTEMYEM | 1767 |
CACNA1F | MLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWSEYDPGAKGRIKHLDVVAL | 1485 |
CACNA1G | LTAQFVLVNVVIAVLMKHLEESNKEAKE-->-<EAELEAELELEMKT-LSPQPHSPLGSPF-L | 1891 |
CACNA1H | LVAQFVLVNVVVAVLMKHLEESNKEARE-->-<DAELDAEIELEMAQGPGSARRVDADRP--- | 1899 |
CACNA1I | LTAQFVLINVVVAVLMKHLDDSNKEAQE-->-<DAEMDAELELEMAHGLGPGPRLPTGSPGAP | 1772 |
CACNA1S | MLCAFLVINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKAIWAEYDPEAKGRIKHLDVVTL | 1425 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1787N | c.5360G>A | Conflict | rs199473316 | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | ||
Inherited Arrhythmia | LQTS | 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 | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | |||
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 | 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 | [Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. Khirurgiia (Mosk). 2013 (2):49-53. 23503384 | |||
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 | |||
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 | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||
Inherited Arrhythmia | LQTS | Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis. PLoS One. 2015 10(4):e0124921. doi: 10.1371/journal.pone.0124921. 25923670 | |||
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 | |||
p.Ser1787Thr | c.5360G>C | Unknown | SIFT: Polyphen: |