Paralogue Annotation for SCN5A residue 1758

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1758
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1758

No paralogue variants have been mapped to residue 1758 for SCN5A.



SCN5APN-S-NGSRGD---CGSPAVGILFFTTYII>I<SFLIVVNMYIAIILENFSVATEESTEPLSE1788
SCN1AVN-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE1802
SCN2ADH-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE1792
SCN3AIH-PGSSVKGD---CGNPSVGIFFFVSYII>I<SFLVVVNMYIAVILENFSVATEESAEPLSE1787
SCN4AEN-PGTSVKGD---CGNPSIGICFFCSYII>I<SFLIVVNMYIAIILENFNVATEESSEPLGE1614
SCN7AIN-PGTQVRGD---CGNPSVGIFYFVSYIL>I<SWLIIVNMYIVVVMEFLNIASKKKNKTLSE1512
SCN8AEH-PGSGFKGD---CGNPSVGIFFFVSYII>I<SFLIVVNMYIAIILENFSVATEESADPLSE1782
SCN9AVH-PGSSVEGD---CGNPSVGIFYFVSYII>I<SFLVVVNMYIAVILENFSVATEESTEPLSE1765
SCN10APN-S-NGTRGD---CGSPAVGIIFFTTYII>I<SFLIMVNMYIAVILENFNVATEESTEPLSE1738
SCN11A------SSSEN---CHLPGIATSYFVSYII>I<SFLIVVNMYIAVILENFNTATEESEDPLGE1620
CACNA1AGIL-----T-R--ECGN-EFAYFYFVSFIF>L<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP1826
CACNA1B-Q------A-NATECGS-DFAYFYFVSFIF>L<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP1724
CACNA1CEP-SNSTEGETP--CGS-SFAVFYFISFYM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP1491
CACNA1DDY--NPGE-EYT--CGS-NFAIVYFISFYM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP1499
CACNA1ETAPSGQNEN-E--RCGT-DLAYVYFVSFIF>F<CSFLMLNLFVAVIMDNFEYLTRDSSI-LGP1738
CACNA1FDF--GPGE-EFT--CGS-NFAIAYFISFFM>L<CAFLIINLFVAVIMDNFDYLTRDWSI-LGP1456
CACNA1GT-----C-------YNT-VISPIYFVSFVL>T<AQFVLVNVVIAVLMKHLEESNKEAKE---E1864
CACNA1HKH----C---LS--YLP-ALSPVYFVTFVL>V<AQFVLVNVVVAVLMKHLEESNKEARE---D1873
CACNA1IRS----C---LS--SLQ-FVSPLYFVSFVL>T<AQFVLINVVVAVLMKHLDDSNKEAQE---D1743
CACNA1SDY--APGE-EYT--CGT-NFAYYYFISFYM>L<CAFLVINLFVAVIMDNFDYLTRDWSI-LGP1396
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1758Vc.5272A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531