Paralogue Annotation for SCN5A residue 1759

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1759
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1759

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS1773FMyoclonic epilepsy of infancyHigh9 17054684

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.



SCN5AN-S-NGSRGD---CGSPAVGILFFTTYIII>S<FLIVVNMYIAIILENFSVATEESTEPLSED1789
SCN1AN-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED1803
SCN2AH-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED1793
SCN3AH-PGSSVKGD---CGNPSVGIFFFVSYIII>S<FLVVVNMYIAVILENFSVATEESAEPLSED1788
SCN4AN-PGTSVKGD---CGNPSIGICFFCSYIII>S<FLIVVNMYIAIILENFNVATEESSEPLGED1615
SCN7AN-PGTQVRGD---CGNPSVGIFYFVSYILI>S<WLIIVNMYIVVVMEFLNIASKKKNKTLSED1513
SCN8AH-PGSGFKGD---CGNPSVGIFFFVSYIII>S<FLIVVNMYIAIILENFSVATEESADPLSED1783
SCN9AH-PGSSVEGD---CGNPSVGIFYFVSYIII>S<FLVVVNMYIAVILENFSVATEESTEPLSED1766
SCN10AN-S-NGTRGD---CGSPAVGIIFFTTYIII>S<FLIMVNMYIAVILENFNVATEESTEPLSED1739
SCN11A-----SSSEN---CHLPGIATSYFVSYIII>S<FLIVVNMYIAVILENFNTATEESEDPLGED1621
CACNA1AIL-----T-R--ECGN-EFAYFYFVSFIFL>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH1827
CACNA1BQ------A-NATECGS-DFAYFYFVSFIFL>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH1725
CACNA1CP-SNSTEGETP--CGS-SFAVFYFISFYML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH1492
CACNA1DY--NPGE-EYT--CGS-NFAIVYFISFYML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH1500
CACNA1EAPSGQNEN-E--RCGT-DLAYVYFVSFIFF>C<SFLMLNLFVAVIMDNFEYLTRDSSI-LGPH1739
CACNA1FF--GPGE-EFT--CGS-NFAIAYFISFFML>C<AFLIINLFVAVIMDNFDYLTRDWSI-LGPH1457
CACNA1G-----C-------YNT-VISPIYFVSFVLT>A<QFVLVNVVIAVLMKHLEESNKEAKE---EA1865
CACNA1HH----C---LS--YLP-ALSPVYFVTFVLV>A<QFVLVNVVVAVLMKHLEESNKEARE---DA1874
CACNA1IS----C---LS--SLQ-FVSPLYFVSFVLT>A<QFVLINVVVAVLMKHLDDSNKEAQE---DA1744
CACNA1SY--APGE-EYT--CGT-NFAYYYFISFYML>C<AFLVINLFVAVIMDNFDYLTRDWSI-LGPH1397
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1759Cc.5276C>G Putative BenignSIFT:
Polyphen: