Paralogue Annotation for SCN5A residue 1763

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1763
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1763

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AV1589MMyotoniaHigh9 8242056, 25755818
SCN9AV1740LParoxysmal extreme pain disorderHigh9 25903274

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5ANGSRGD---CGSPAVGILFFTTYIIISFLI>V<VNMYIAIILENFSVATEESTEPLSEDDFDM1793
SCN1ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1807
SCN2ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1797
SCN3ASSVKGD---CGNPSVGIFFFVSYIIISFLV>V<VNMYIAVILENFSVATEESAEPLSEDDFEM1792
SCN4ATSVKGD---CGNPSIGICFFCSYIIISFLI>V<VNMYIAIILENFNVATEESSEPLGEDDFEM1619
SCN7ATQVRGD---CGNPSVGIFYFVSYILISWLI>I<VNMYIVVVMEFLNIASKKKNKTLSEDDFRK1517
SCN8ASGFKGD---CGNPSVGIFFFVSYIIISFLI>V<VNMYIAIILENFSVATEESADPLSEDDFET1787
SCN9ASSVEGD---CGNPSVGIFYFVSYIIISFLV>V<VNMYIAVILENFSVATEESTEPLSEDDFEM1770
SCN10ANGTRGD---CGSPAVGIIFFTTYIIISFLI>M<VNMYIAVILENFNVATEESTEPLSEDDFDM1743
SCN11A-SSSEN---CHLPGIATSYFVSYIIISFLI>V<VNMYIAVILENFNTATEESEDPLGEDDFDI1625
CACNA1A---T-R--ECGN-EFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1831
CACNA1B---A-NATECGS-DFAYFYFVSFIFLCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1729
CACNA1CSTEGETP--CGS-SFAVFYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1496
CACNA1DPGE-EYT--CGS-NFAIVYFISFYMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1504
CACNA1EQNEN-E--RCGT-DLAYVYFVSFIFFCSFL>M<LNLFVAVIMDNFEYLTRDSSI-LGPHHLDE1743
CACNA1FPGE-EFT--CGS-NFAIAYFISFFMLCAFL>I<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1461
CACNA1G-C-------YNT-VISPIYFVSFVLTAQFV>L<VNVVIAVLMKHLEESNKEAKE---EAELEA1869
CACNA1H-C---LS--YLP-ALSPVYFVTFVLVAQFV>L<VNVVVAVLMKHLEESNKEARE---DAELDA1878
CACNA1I-C---LS--SLQ-FVSPLYFVSFVLTAQFV>L<INVVVAVLMKHLDDSNKEAQE---DAEMDA1748
CACNA1SPGE-EYT--CGT-NFAYYYFISFYMLCAFL>V<INLFVAVIMDNFDYLTRDWSI-LGPHHLDE1401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1763Mc.5287G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. Cardiovasc Res. 2004 64(2):268-78. 15485686
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Modeling type 3 long QT syndrome with cardiomyocytes derived from patient-specific induced pluripotent stem cells. Int J Cardiol. 2013 168(6):5277-86. doi: 10.1016/j.ijcard.2013.08.015. 23998552