Paralogue Annotation for SCN5A residue 1787

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1787
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1787

No paralogue variants have been mapped to residue 1787 for SCN5A.



SCN5AIISFLIVVNMYIAIILENFSVATEESTEPL>S<EDDFDMFYEIWEKFDPEATQFIEYSVLSDF1817
SCN1AIISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFMEFEKLSQF1831
SCN2AIISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFIEFAKLSDF1821
SCN3AIISFLVVVNMYIAVILENFSVATEESAEPL>S<EDDFEMFYEVWEKFDPDATQFIEFSKLSDF1816
SCN4AIISFLIVVNMYIAIILENFNVATEESSEPL>G<EDDFEMFYETWEKFDPDATQFIAYSRLSDF1643
SCN7ALISWLIIVNMYIVVVMEFLNIASKKKNKTL>S<EDDFRKFFQVWKRFDPDRTQYIDSSKLSDF1541
SCN8AIISFLIVVNMYIAIILENFSVATEESADPL>S<EDDFETFYEIWEKFDPDATQFIEYCKLADF1811
SCN9AIISFLVVVNMYIAVILENFSVATEESTEPL>S<EDDFEMFYEVWEKFDPDATQFIEFSKLSDF1794
SCN10AIISFLIMVNMYIAVILENFNVATEESTEPL>S<EDDFDMFYETWEKFDPEATQFITFSALSDF1767
SCN11AIISFLIVVNMYIAVILENFNTATEESEDPL>G<EDDFDIFYEVWEKFDPEATQFIKYSALSDF1649
CACNA1AFLCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEYVRVWAEYDPAACGRIHYKDMYSL1855
CACNA1BFLCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEFIRVWAEYDPAACGRISYNDMFEM1753
CACNA1CMLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWAEYDPEAKGRIKHLDVVTL1520
CACNA1DMLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWSEYDPEAKGRIKHLDVVTL1528
CACNA1EFFCSFLMLNLFVAVIMDNFEYLTRDSSI-L>G<PHHLDEFVRVWAEYDRAACGRIHYTEMYEM1767
CACNA1FMLCAFLIINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKRIWSEYDPGAKGRIKHLDVVAL1485
CACNA1GLTAQFVLVNVVIAVLMKHLEESNKEAKE-->-<EAELEAELELEMKT-LSPQPHSPLGSPF-L1891
CACNA1HLVAQFVLVNVVVAVLMKHLEESNKEARE-->-<DAELDAEIELEMAQGPGSARRVDADRP---1899
CACNA1ILTAQFVLINVVVAVLMKHLDDSNKEAQE-->-<DAEMDAELELEMAHGLGPGPRLPTGSPGAP1772
CACNA1SMLCAFLVINLFVAVIMDNFDYLTRDWSI-L>G<PHHLDEFKAIWAEYDPEAKGRIKHLDVVTL1425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1787Nc.5360G>A ConflictSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
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 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 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 ArrhythmiaBrS [Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene]. Khirurgiia (Mosk). 2013 (2):49-53. 23503384
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
Inherited ArrhythmiaLQTS 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 ArrhythmiaLQTS 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.Ser1787Thrc.5360G>C UnknownSIFT:
Polyphen: