Paralogue Annotation for SCN5A residue 1576

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1576
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1576

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1589GDravet syndromeMedium9 26096185

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.



SCN5AMVETDDQSPEKINILAKINLLFVAIFTGEC>I<VKLAALR-HYYFTNSWNIFDFVVVILSIVG1605
SCN1AMVETDDQSEYVTTILSRINLVFIVLFTGEC>V<LKLISLR-HYYFTIGWNIFDFVVVILSIVG1618
SCN2AMVETDDQSQEMTNILYWINLVFIVLFTGEC>V<LKLISLR-YYYFTIGWNIFDFVVVILSIVG1608
SCN3AMVETDDQGKYMTLVLSRINLVFIVLFTGEF>V<LKLVSLR-HYYFTIGWNIFDFVVVILSIVG1603
SCN4AMVETDNQSQLKVDILYNINMIFIIIFTGEC>V<LKMLALR-QYYFTVGWNIFDFVVVILSIVG1430
SCN7AMIDTDVQSLQMSIALYWINSIFVMLYTMEC>I<LKLIAFR-CFYFTIAWNIFDFMVVIFSITG1328
SCN8AMVETDTQSKQMENILYWINLVFVIFFTCEC>V<LKMFALR-HYYFTIGWNIFDFVVVILSIVG1599
SCN9AMVEKEGQSQHMTEVLYWINVVFIILFTGEC>V<LKLISLR-HYYFTVGWNIFDFVVVIISIVG1581
SCN10AMVETDDQSEEKTKILGKINQFFVAVFTGEC>V<MKMFALR-QYYFTNGWNVFDFIVVVLSIAS1553
SCN11AMAESYNQPKAMKSILDHLNWVFVVIFTLEC>L<IKIFALR-QYYFTNGWNLFDCVVVLLSIVS1443
CACNA1AMMKFYGASVAYENALRVFNIVFTSLFSLEC>V<LKVMAFGILNYFRDAWNIFDFVTVLGSITD1644
CACNA1BMMKFYDAPYEYELMLKCLNIVFTSMFSMEC>V<LKIIAFGVLNYFRDAWNVFDFVTVLGSITD1550
CACNA1CAMQHYGQSCLFKIAMNILNMLFTGLFTVEM>I<LKLIAFKPKHYFCDAWNTFDALIVVGSIVD1297
CACNA1DAMQHYEQSKMFNDAMDILNMVFTGVFTVEM>V<LKVIAFKPKGYFSDAWNTFDSLIVIGSIID1303
CACNA1EMMKYYSAPCTYELALKYLNIAFTMVFSLEC>V<LKVIAFGFLNYFRDTWNIFDFITVIGSITE1556
CACNA1FAMQHYEQTAPFNYAMDILNMVFTGLFTIEM>V<LKIIAFKPKHYFTDAWNTFDALIVVGSIVD1268
CACNA1GAMEHYQQPQILDEALKICNYIFTVIFVLES>V<FKLVAFGFRRFFQDRWNQLDLAIVLLSIMG1689
CACNA1HSMEHYNQPKSLDEALKYCNYVFTIVFVFEA>A<LKLVAFGFRRFFKDRWNQLDLAIVLLSLMG1695
CACNA1ISLEHYNQPTSLETALKYCNYMFTTVFVLEA>V<LKLVAFGLRRFFKDRWNQLDLAIVLLSVMG1565
CACNA1SGMQHYNQSEQMNHISDILNVAFTIIFTLEM>I<LKLMAFKARGYFGDPWNVFDFLIVIGSIID1196
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1576 for SCN5A.