Paralogue Annotation for SCN5A residue 1575

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1575
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1575

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1588RMyoclonic epilepsy of infancyHigh9 17561957
SCN10AC1523YAtrial fibrillationHigh9 25691686, 25691538

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.



SCN5AMMVETDDQSPEKINILAKINLLFVAIFTGE>C<IVKLAALR-HYYFTNSWNIFDFVVVILSIV1604
SCN1AMMVETDDQSEYVTTILSRINLVFIVLFTGE>C<VLKLISLR-HYYFTIGWNIFDFVVVILSIV1617
SCN2AMMVETDDQSQEMTNILYWINLVFIVLFTGE>C<VLKLISLR-YYYFTIGWNIFDFVVVILSIV1607
SCN3AMMVETDDQGKYMTLVLSRINLVFIVLFTGE>F<VLKLVSLR-HYYFTIGWNIFDFVVVILSIV1602
SCN4AMMVETDNQSQLKVDILYNINMIFIIIFTGE>C<VLKMLALR-QYYFTVGWNIFDFVVVILSIV1429
SCN7AMMIDTDVQSLQMSIALYWINSIFVMLYTME>C<ILKLIAFR-CFYFTIAWNIFDFMVVIFSIT1327
SCN8AMMVETDTQSKQMENILYWINLVFVIFFTCE>C<VLKMFALR-HYYFTIGWNIFDFVVVILSIV1598
SCN9AMMVEKEGQSQHMTEVLYWINVVFIILFTGE>C<VLKLISLR-HYYFTVGWNIFDFVVVIISIV1580
SCN10AMMVETDDQSEEKTKILGKINQFFVAVFTGE>C<VMKMFALR-QYYFTNGWNVFDFIVVVLSIA1552
SCN11AMMAESYNQPKAMKSILDHLNWVFVVIFTLE>C<LIKIFALR-QYYFTNGWNLFDCVVVLLSIV1442
CACNA1ALMMKFYGASVAYENALRVFNIVFTSLFSLE>C<VLKVMAFGILNYFRDAWNIFDFVTVLGSIT1643
CACNA1BLMMKFYDAPYEYELMLKCLNIVFTSMFSME>C<VLKIIAFGVLNYFRDAWNVFDFVTVLGSIT1549
CACNA1CLAMQHYGQSCLFKIAMNILNMLFTGLFTVE>M<ILKLIAFKPKHYFCDAWNTFDALIVVGSIV1296
CACNA1DLAMQHYEQSKMFNDAMDILNMVFTGVFTVE>M<VLKVIAFKPKGYFSDAWNTFDSLIVIGSII1302
CACNA1ELMMKYYSAPCTYELALKYLNIAFTMVFSLE>C<VLKVIAFGFLNYFRDTWNIFDFITVIGSIT1555
CACNA1FLAMQHYEQTAPFNYAMDILNMVFTGLFTIE>M<VLKIIAFKPKHYFTDAWNTFDALIVVGSIV1267
CACNA1GMAMEHYQQPQILDEALKICNYIFTVIFVLE>S<VFKLVAFGFRRFFQDRWNQLDLAIVLLSIM1688
CACNA1HMSMEHYNQPKSLDEALKYCNYVFTIVFVFE>A<ALKLVAFGFRRFFKDRWNQLDLAIVLLSLM1694
CACNA1IMSLEHYNQPTSLETALKYCNYMFTTVFVLE>A<VLKLVAFGLRRFFKDRWNQLDLAIVLLSVM1564
CACNA1SLGMQHYNQSEQMNHISDILNVAFTIIFTLE>M<ILKLMAFKARGYFGDPWNVFDFLIVIGSII1195
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1575 for SCN5A.