Paralogue Annotation for SCN5A residue 1573

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1573
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1573

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1586EDravet syndromeHigh9 18930999

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.



SCN5AVTMMVETDDQSPEKINILAKINLLFVAIFT>G<ECIVKLAALR-HYYFTNSWNIFDFVVVILS1602
SCN1AVTMMVETDDQSEYVTTILSRINLVFIVLFT>G<ECVLKLISLR-HYYFTIGWNIFDFVVVILS1615
SCN2AVTMMVETDDQSQEMTNILYWINLVFIVLFT>G<ECVLKLISLR-YYYFTIGWNIFDFVVVILS1605
SCN3AVTMMVETDDQGKYMTLVLSRINLVFIVLFT>G<EFVLKLVSLR-HYYFTIGWNIFDFVVVILS1600
SCN4AVTMMVETDNQSQLKVDILYNINMIFIIIFT>G<ECVLKMLALR-QYYFTVGWNIFDFVVVILS1427
SCN7AIAMMIDTDVQSLQMSIALYWINSIFVMLYT>M<ECILKLIAFR-CFYFTIAWNIFDFMVVIFS1325
SCN8AVTMMVETDTQSKQMENILYWINLVFVIFFT>C<ECVLKMFALR-HYYFTIGWNIFDFVVVILS1596
SCN9AVTMMVEKEGQSQHMTEVLYWINVVFIILFT>G<ECVLKLISLR-HYYFTVGWNIFDFVVVIIS1578
SCN10AITMMVETDDQSEEKTKILGKINQFFVAVFT>G<ECVMKMFALR-QYYFTNGWNVFDFIVVVLS1550
SCN11AISMMAESYNQPKAMKSILDHLNWVFVVIFT>L<ECLIKIFALR-QYYFTNGWNLFDCVVVLLS1440
CACNA1AIVLMMKFYGASVAYENALRVFNIVFTSLFS>L<ECVLKVMAFGILNYFRDAWNIFDFVTVLGS1641
CACNA1BVVLMMKFYDAPYEYELMLKCLNIVFTSMFS>M<ECVLKIIAFGVLNYFRDAWNVFDFVTVLGS1547
CACNA1CICLAMQHYGQSCLFKIAMNILNMLFTGLFT>V<EMILKLIAFKPKHYFCDAWNTFDALIVVGS1294
CACNA1DLCLAMQHYEQSKMFNDAMDILNMVFTGVFT>V<EMVLKVIAFKPKGYFSDAWNTFDSLIVIGS1300
CACNA1EVVLMMKYYSAPCTYELALKYLNIAFTMVFS>L<ECVLKVIAFGFLNYFRDTWNIFDFITVIGS1553
CACNA1FVALAMQHYEQTAPFNYAMDILNMVFTGLFT>I<EMVLKIIAFKPKHYFTDAWNTFDALIVVGS1265
CACNA1GVTMAMEHYQQPQILDEALKICNYIFTVIFV>L<ESVFKLVAFGFRRFFQDRWNQLDLAIVLLS1686
CACNA1HITMSMEHYNQPKSLDEALKYCNYVFTIVFV>F<EAALKLVAFGFRRFFKDRWNQLDLAIVLLS1692
CACNA1IVTMSLEHYNQPTSLETALKYCNYMFTTVFV>L<EAVLKLVAFGLRRFFKDRWNQLDLAIVLLS1562
CACNA1SICLGMQHYNQSEQMNHISDILNVAFTIIFT>L<EMILKLMAFKARGYFGDPWNVFDFLIVIGS1193
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1573 for SCN5A.