Paralogue Annotation for SCN5A residue 1691

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1691
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1691

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AH1737LEpisodic ataxia 2Medium9 15293273

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.



SCN5AYSIFGMANFAYVKW-----EAG-----IDD>M<FNFQTFANSMLCLFQITTSAGWDGLLSPIL1721
SCN1AYAIFGMSNFAYVKR-----EVG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL1734
SCN2AYAIFGMSNFAYVKR-----EVG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL1724
SCN3AYAIFGMSNFAYVKK-----EAG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL1719
SCN4AYSIFGMSNFAYVKK-----ESG-----IDD>M<FNFETFGNSIICLFEITTSAGWDGLLNPIL1546
SCN7AYAVFGMYNFAYVKK-----EAG-----IND>V<SNFETFGNSMLCLFQVAIFAGWDGMLDAIF1444
SCN8AFSIFGMSNFAYVKH-----EAG-----IDD>M<FNFETFGNSMICLFQITTSAGWDGLLLPIL1715
SCN9AYAIFGMSNFAYVKK-----EDG-----IND>M<FNFETFGNSMICLFQITTSAGWDGLLAPIL1697
SCN10AYSIFGMSSFPHVRW-----EAG-----IDD>M<FNFQTFANSMLCLFQITTSAGWDGLLSPIL1671
SCN11AYAILGMNWFSKVNP-----ESG-----IDD>I<FNFKTFASSMLCLFQISTSAGWDSLLSPML1561
CACNA1AYAIIGMQVFGNIGIDVEDEDSDEDEFQITE>H<NNFRTFFQALMLLFRSATGEAWHNIMLSCL1766
CACNA1BYAIIGMQVFGNIALDD---DTS-----INR>H<NNFRTFLQALMLLFRSATGEAWHEIMLSCL1666
CACNA1CYAVIGMQVFGKIALND---TTE-----INR>N<NNFQTFPQAVLLLFRCATGEAWQDIMLACM1426
CACNA1DYAVIGMQMFGKVAMRD---NNQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEIMLACL1436
CACNA1EYAIIGMQVFGNIKLDE---ESH-----INR>H<NNFRSFFGSLMLLFRSATGEAWQEIMLSCL1673
CACNA1FYAVIGMQMFGKVALQD---GTQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEIMLASL1393
CACNA1GFAALGVELFGDLECDET---HP--CEGLGR>H<ATFRNFGMAFLTLFRVSTGDNWNGIMKDTL1812
CACNA1HYAALGVELFGRLECSED---NP--CEGLSR>H<ATFSNFGMAFLTLFRVSTGDNWNGIMKDTL1818
CACNA1IYAALGVELFGKLVCNDE---NP--CEGMSR>H<ATFENFGMAFLTLFQVSTGDNWNGIMKDTL1688
CACNA1SYAVIGMQMFGKIALVD---GTQ-----INR>N<NNFQTFPQAVLLLFRCATGEAWQEILLACS1333
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met1691Thrc.5072T>C UnknownSIFT:
Polyphen: