Paralogue Annotation for SCN5A residue 692

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 692
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 692

No paralogue variants have been mapped to residue 692 for SCN5A.



SCN5A-CPPC-------------------WNR-LA>Q<RYLIWECCPLWMSIKQGVKLVVMDPFTDLT722
SCN1A-CPPC-------------------WYK-FS>N<IFLIWDCSPYWLKVKHVVNLVVMDPFVDLA773
SCN2A-CPPC-------------------WYK-FA>N<MCLIWDCCKPWLKVKHLVNLVVMDPFVDLA764
SCN3A-CPPC-------------------WYR-FA>N<VFLIWDCCDAWLKVKHLVNLIVMDPFVDLA765
SCN4A-CPPW-------------------WYK-CA>H<KVLIWNCCAPWLKFKNIIHLIVMDPFVDLG583
SCN7A-CPLY-------------------WYK-FA>K<TFLIWNCSPCWLKLKEFVHRIIMAPFTDLF510
SCN8A-CPPC-------------------WYK-FA>N<TFLIWECHPYWIKLKEIVNLIVMDPFVDLA758
SCN9A-CPPW-------------------WYR-FA>H<KFLIWNCSPYWIKFKKCIYFIVMDPFVDLA738
SCN10A-CPPC-------------------LTS-LS>Q<KYLIWDCCPMWVKLKTILFGLVTDPFAELT670
SCN11A-CLPC-------------------GEN-LA>S<KYLVWNCCPQWLCVKKVLRTVMTDPFTELA582
CACNA1A-FARA-------------------SIK-SA>K<LENSTFFHKKERRMRFYIRRMVKTQAFYWT492
CACNA1B-FARA-------------------SLK-SG>K<TESSSYFRRKEKMFRFFIRRMVKAQSFYWV488
CACNA1C--ARL-------------------AHR-IS>K<SKFSRYWRRWNRFCRRKCRAAVKSNVFYWL529
CACNA1DGCRRW-------------------GQA-IS>K<SKLSRRWRRWNRFNRRRCRAAVKSVTFYWL548
CACNA1E-LARA-------------------SIK-SA>K<VDGVSYFRHKERLLRISIRHMVKSQVFYWI481
CACNA1FSCTRC-------------------LNK-IM>K<TRVCRRLRRANRVLRARCRRAVKSNACYWA534
CACNA1G-SRRQ---R------------------SLG>P<DAEPSSVLAFWRLICDTFRKIVDSKYFGRG748
CACNA1H-TRPPRATDTPGPG---PGSPQRRAQQRAA>P<GE-PGWMGRLWVTFSGKLRRIVDSKYFSRG798
CACNA1I-GARS---SEDGASSELG--KEEEEEE-QA>D<GA-VWLCGDVWRETRAKLRGIVDSKYFNRG645
CACNA1S------------------------LNK-I->-<IQFIRHWRQWNRIFRWKCHDIVKSKVFYWL437
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q692Kc.2074C>A ConflictSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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 ArrhythmiaLQTS 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