Paralogue Annotation for SCN5A residue 1765

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1765
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1765

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AN1715TBrugada syndromeHigh9 24998131

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.



SCN5ASRGD---CGSPAVGILFFTTYIIISFLIVV>N<MYIAIILENFSVATEESTEPLSEDDFDMFY1795
SCN1AVKGD---CGNPSVGIFFFVSYIIISFLVVV>N<MYIAVILENFSVATEESAEPLSEDDFEMFY1809
SCN2AVKGD---CGNPSVGIFFFVSYIIISFLVVV>N<MYIAVILENFSVATEESAEPLSEDDFEMFY1799
SCN3AVKGD---CGNPSVGIFFFVSYIIISFLVVV>N<MYIAVILENFSVATEESAEPLSEDDFEMFY1794
SCN4AVKGD---CGNPSIGICFFCSYIIISFLIVV>N<MYIAIILENFNVATEESSEPLGEDDFEMFY1621
SCN7AVRGD---CGNPSVGIFYFVSYILISWLIIV>N<MYIVVVMEFLNIASKKKNKTLSEDDFRKFF1519
SCN8AFKGD---CGNPSVGIFFFVSYIIISFLIVV>N<MYIAIILENFSVATEESADPLSEDDFETFY1789
SCN9AVEGD---CGNPSVGIFYFVSYIIISFLVVV>N<MYIAVILENFSVATEESTEPLSEDDFEMFY1772
SCN10ATRGD---CGSPAVGIIFFTTYIIISFLIMV>N<MYIAVILENFNVATEESTEPLSEDDFDMFY1745
SCN11ASSEN---CHLPGIATSYFVSYIIISFLIVV>N<MYIAVILENFNTATEESEDPLGEDDFDIFY1627
CACNA1A-T-R--ECGN-EFAYFYFVSFIFLCSFLML>N<LFVAVIMDNFEYLTRDSSI-LGPHHLDEYV1833
CACNA1B-A-NATECGS-DFAYFYFVSFIFLCSFLML>N<LFVAVIMDNFEYLTRDSSI-LGPHHLDEFI1731
CACNA1CEGETP--CGS-SFAVFYFISFYMLCAFLII>N<LFVAVIMDNFDYLTRDWSI-LGPHHLDEFK1498
CACNA1DE-EYT--CGS-NFAIVYFISFYMLCAFLII>N<LFVAVIMDNFDYLTRDWSI-LGPHHLDEFK1506
CACNA1EEN-E--RCGT-DLAYVYFVSFIFFCSFLML>N<LFVAVIMDNFEYLTRDSSI-LGPHHLDEFV1745
CACNA1FE-EFT--CGS-NFAIAYFISFFMLCAFLII>N<LFVAVIMDNFDYLTRDWSI-LGPHHLDEFK1463
CACNA1G-------YNT-VISPIYFVSFVLTAQFVLV>N<VVIAVLMKHLEESNKEAKE---EAELEAEL1871
CACNA1H---LS--YLP-ALSPVYFVTFVLVAQFVLV>N<VVVAVLMKHLEESNKEARE---DAELDAEI1880
CACNA1I---LS--SLQ-FVSPLYFVSFVLTAQFVLI>N<VVVAVLMKHLDDSNKEAQE---DAEMDAEL1750
CACNA1SE-EYT--CGT-NFAYYYFISFYMLCAFLVI>N<LFVAVIMDNFDYLTRDWSI-LGPHHLDEFK1403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1765 for SCN5A.