Paralogue Annotation for SCN5A residue 1769

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1769
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1769

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1783TMyoclonic epilepsy of infancyHigh9 17347258, 21703448, 23808377
SCN1AA1783VMyoclonic epilepsy of infancyHigh9 17561957, 21703448
CACNA1CA1473GTimothy syndromeHigh9 22106044
SCN9AA1746GErythromelalgiaHigh9 23292638

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.



SCN5A---CGSPAVGILFFTTYIIISFLIVVNMYI>A<IILENFSVATEESTEPLSEDDFDMFYEIWE1799
SCN1A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1813
SCN2A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1803
SCN3A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1798
SCN4A---CGNPSIGICFFCSYIIISFLIVVNMYI>A<IILENFNVATEESSEPLGEDDFEMFYETWE1625
SCN7A---CGNPSVGIFYFVSYILISWLIIVNMYI>V<VVMEFLNIASKKKNKTLSEDDFRKFFQVWK1523
SCN8A---CGNPSVGIFFFVSYIIISFLIVVNMYI>A<IILENFSVATEESADPLSEDDFETFYEIWE1793
SCN9A---CGNPSVGIFYFVSYIIISFLVVVNMYI>A<VILENFSVATEESTEPLSEDDFEMFYEVWE1776
SCN10A---CGSPAVGIIFFTTYIIISFLIMVNMYI>A<VILENFNVATEESTEPLSEDDFDMFYETWE1749
SCN11A---CHLPGIATSYFVSYIIISFLIVVNMYI>A<VILENFNTATEESEDPLGEDDFDIFYEVWE1631
CACNA1A--ECGN-EFAYFYFVSFIFLCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEYVRVWA1837
CACNA1BATECGS-DFAYFYFVSFIFLCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEFIRVWA1735
CACNA1CP--CGS-SFAVFYFISFYMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWA1502
CACNA1DT--CGS-NFAIVYFISFYMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWS1510
CACNA1E--RCGT-DLAYVYFVSFIFFCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEFVRVWA1749
CACNA1FT--CGS-NFAIAYFISFFMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWS1467
CACNA1G---YNT-VISPIYFVSFVLTAQFVLVNVVI>A<VLMKHLEESNKEAKE---EAELEAELELEM1875
CACNA1HS--YLP-ALSPVYFVTFVLVAQFVLVNVVV>A<VLMKHLEESNKEARE---DAELDAEIELEM1884
CACNA1IS--SLQ-FVSPLYFVSFVLTAQFVLINVVV>A<VLMKHLDDSNKEAQE---DAEMDAELELEM1754
CACNA1ST--CGT-NFAYYYFISFYMLCAFLVINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKAIWA1407
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1769Vc.5306C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging