Paralogue Annotation for SCN5A residue 1539

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1539
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1539

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1552YDravet syndromeHigh9 26438699

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.



SCN5APIPRPLNKYQGFIFDIVTKQAFDVTIMFLI>C<LNMVTMMVETDDQSPEKINILAKINLLFVA1569
SCN1APIPRPGNKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQSEYVTTILSRINLVFIV1582
SCN2APIPRPANKFQGMVFDFVTKQVFDISIMILI>C<LNMVTMMVETDDQSQEMTNILYWINLVFIV1572
SCN3APIPRPANKFQGMVFDFVTRQVFDISIMILI>C<LNMVTMMVETDDQGKYMTLVLSRINLVFIV1567
SCN4APIPRPQNKIQGMVYDLVTKQAFDITIMILI>C<LNMVTMMVETDNQSQLKVDILYNINMIFII1394
SCN7APVPRPLNKLQGFIFDVVTSQAFNVIVMVLI>C<FQAIAMMIDTDVQSLQMSIALYWINSIFVM1292
SCN8APIPRPLNKIQGIVFDFVTQQAFDIVIMMLI>C<LNMVTMMVETDTQSKQMENILYWINLVFVI1563
SCN9APIPRPGNKIQGCIFDLVTNQAFDISIMVLI>C<LNMVTMMVEKEGQSQHMTEVLYWINVVFII1545
SCN10APIPRPLNKFQGFVFDIVTRQAFDITIMVLI>C<LNMITMMVETDDQSEEKTKILGKINQFFVA1517
SCN11APIPRPLNKCQGLVFDIVTSQIFDIIIISLI>I<LNMISMMAESYNQPKAMKSILDHLNWVFVV1407
CACNA1AHMPQNKQSFQYRMWQFVVSPPFEYTIMAMI>A<LNTIVLMMKFYGASVAYENALRVFNIVFTS1607
CACNA1BYMPQNRQSFQYKTWTFVVSPPFEYFIMAMI>A<LNTVVLMMKFYDAPYEYELMLKCLNIVFTS1513
CACNA1CYIPK--NQHQYKVWYVVNSTYFEYLMFVLI>L<LNTICLAMQHYGQSCLFKIAMNILNMLFTG1260
CACNA1DYIPK--NPYQYKFWYVVNSSPFEYMMFVLI>M<LNTLCLAMQHYEQSKMFNDAMDILNMVFTG1266
CACNA1EYMPQNRHTFQYRVWHFVVSPSFEYTIMAMI>A<LNTVVLMMKYYSAPCTYELALKYLNIAFTM1519
CACNA1FYIPK--NPHQYRVWATVNSAAFEYLMFLLI>L<LNTVALAMQHYEQTAPFNYAMDILNMVFTG1231
CACNA1GPYYSDYSRFRLLVHHLCTSHYLDLFITGVI>G<LNVVTMAMEHYQQPQILDEALKICNYIFTV1652
CACNA1HPYYADYSPTRRSIHSLCTSHYLDLFITFII>C<VNVITMSMEHYNQPKSLDEALKYCNYVFTI1658
CACNA1IPYYATYCHTRLLIHSMCTSHYLDIFITFII>C<LNVVTMSLEHYNQPTSLETALKYCNYMFTT1528
CACNA1SYIPK--NPYQYQVWYIVTSSYFEYLMFALI>M<LNTICLGMQHYNQSEQMNHISDILNVAFTI1159
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C1539Yc.4616G>A Putative BenignSIFT:
Polyphen: