No paralogue variants have been mapped to residue 692 for SCN5A.
SCN5A | -CPPC-------------------WNR-LA>Q<RYLIWECCPLWMSIKQGVKLVVMDPFTDLT | 722 |
SCN1A | -CPPC-------------------WYK-FS>N<IFLIWDCSPYWLKVKHVVNLVVMDPFVDLA | 773 |
SCN2A | -CPPC-------------------WYK-FA>N<MCLIWDCCKPWLKVKHLVNLVVMDPFVDLA | 764 |
SCN3A | -CPPC-------------------WYR-FA>N<VFLIWDCCDAWLKVKHLVNLIVMDPFVDLA | 765 |
SCN4A | -CPPW-------------------WYK-CA>H<KVLIWNCCAPWLKFKNIIHLIVMDPFVDLG | 583 |
SCN7A | -CPLY-------------------WYK-FA>K<TFLIWNCSPCWLKLKEFVHRIIMAPFTDLF | 510 |
SCN8A | -CPPC-------------------WYK-FA>N<TFLIWECHPYWIKLKEIVNLIVMDPFVDLA | 758 |
SCN9A | -CPPW-------------------WYR-FA>H<KFLIWNCSPYWIKFKKCIYFIVMDPFVDLA | 738 |
SCN10A | -CPPC-------------------LTS-LS>Q<KYLIWDCCPMWVKLKTILFGLVTDPFAELT | 670 |
SCN11A | -CLPC-------------------GEN-LA>S<KYLVWNCCPQWLCVKKVLRTVMTDPFTELA | 582 |
CACNA1A | -FARA-------------------SIK-SA>K<LENSTFFHKKERRMRFYIRRMVKTQAFYWT | 492 |
CACNA1B | -FARA-------------------SLK-SG>K<TESSSYFRRKEKMFRFFIRRMVKAQSFYWV | 488 |
CACNA1C | --ARL-------------------AHR-IS>K<SKFSRYWRRWNRFCRRKCRAAVKSNVFYWL | 529 |
CACNA1D | GCRRW-------------------GQA-IS>K<SKLSRRWRRWNRFNRRRCRAAVKSVTFYWL | 548 |
CACNA1E | -LARA-------------------SIK-SA>K<VDGVSYFRHKERLLRISIRHMVKSQVFYWI | 481 |
CACNA1F | SCTRC-------------------LNK-IM>K<TRVCRRLRRANRVLRARCRRAVKSNACYWA | 534 |
CACNA1G | -SRRQ---R------------------SLG>P<DAEPSSVLAFWRLICDTFRKIVDSKYFGRG | 748 |
CACNA1H | -TRPPRATDTPGPG---PGSPQRRAQQRAA>P<GE-PGWMGRLWVTFSGKLRRIVDSKYFSRG | 798 |
CACNA1I | -GARS---SEDGASSELG--KEEEEEE-QA>D<GA-VWLCGDVWRETRAKLRGIVDSKYFNRG | 645 |
CACNA1S | ------------------------LNK-I->-<IQFIRHWRQWNRIFRWKCHDIVKSKVFYWL | 437 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q692K | c.2074C>A | Conflict | rs45553235 | SIFT: deleterious Polyphen: benign | |
Reports | Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | ||
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 | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | |||
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 | 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 | |||
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 | |||
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 | Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175 |