Paralogue Annotation for SCN5A residue 1764

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1764
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1764

No paralogue variants have been mapped to residue 1764 for SCN5A.



SCN5AGSRGD---CGSPAVGILFFTTYIIISFLIV>V<NMYIAIILENFSVATEESTEPLSEDDFDMF1794
SCN1ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1808
SCN2ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1798
SCN3ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1793
SCN4ASVKGD---CGNPSIGICFFCSYIIISFLIV>V<NMYIAIILENFNVATEESSEPLGEDDFEMF1620
SCN7AQVRGD---CGNPSVGIFYFVSYILISWLII>V<NMYIVVVMEFLNIASKKKNKTLSEDDFRKF1518
SCN8AGFKGD---CGNPSVGIFFFVSYIIISFLIV>V<NMYIAIILENFSVATEESADPLSEDDFETF1788
SCN9ASVEGD---CGNPSVGIFYFVSYIIISFLVV>V<NMYIAVILENFSVATEESTEPLSEDDFEMF1771
SCN10AGTRGD---CGSPAVGIIFFTTYIIISFLIM>V<NMYIAVILENFNVATEESTEPLSEDDFDMF1744
SCN11ASSSEN---CHLPGIATSYFVSYIIISFLIV>V<NMYIAVILENFNTATEESEDPLGEDDFDIF1626
CACNA1A--T-R--ECGN-EFAYFYFVSFIFLCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEY1832
CACNA1B--A-NATECGS-DFAYFYFVSFIFLCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF1730
CACNA1CTEGETP--CGS-SFAVFYFISFYMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1497
CACNA1DGE-EYT--CGS-NFAIVYFISFYMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1505
CACNA1ENEN-E--RCGT-DLAYVYFVSFIFFCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF1744
CACNA1FGE-EFT--CGS-NFAIAYFISFFMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1462
CACNA1GC-------YNT-VISPIYFVSFVLTAQFVL>V<NVVIAVLMKHLEESNKEAKE---EAELEAE1870
CACNA1HC---LS--YLP-ALSPVYFVTFVLVAQFVL>V<NVVVAVLMKHLEESNKEARE---DAELDAE1879
CACNA1IC---LS--SLQ-FVSPLYFVSFVLTAQFVL>I<NVVVAVLMKHLDDSNKEAQE---DAEMDAE1749
CACNA1SGE-EYT--CGT-NFAYYYFISFYMLCAFLV>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1402
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1764Fc.5290G>T Inherited ArrhythmiaBrSrs199473309SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. Circ Arrhythm Electrophysiol. 2009 2(1):16-23. 19808440
Inherited ArrhythmiaBrS 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