Paralogue Annotation for SCN5A residue 1570

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1570
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1570

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1232RNight blindness, congenital stationary, incompleteMedium9 25307992

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.



SCN5ALNMVTMMVETDDQSPEKINILAKINLLFVA>I<FTGECIVKLAALR-HYYFTNSWNIFDFVVV1599
SCN1ALNMVTMMVETDDQSEYVTTILSRINLVFIV>L<FTGECVLKLISLR-HYYFTIGWNIFDFVVV1612
SCN2ALNMVTMMVETDDQSQEMTNILYWINLVFIV>L<FTGECVLKLISLR-YYYFTIGWNIFDFVVV1602
SCN3ALNMVTMMVETDDQGKYMTLVLSRINLVFIV>L<FTGEFVLKLVSLR-HYYFTIGWNIFDFVVV1597
SCN4ALNMVTMMVETDNQSQLKVDILYNINMIFII>I<FTGECVLKMLALR-QYYFTVGWNIFDFVVV1424
SCN7AFQAIAMMIDTDVQSLQMSIALYWINSIFVM>L<YTMECILKLIAFR-CFYFTIAWNIFDFMVV1322
SCN8ALNMVTMMVETDTQSKQMENILYWINLVFVI>F<FTCECVLKMFALR-HYYFTIGWNIFDFVVV1593
SCN9ALNMVTMMVEKEGQSQHMTEVLYWINVVFII>L<FTGECVLKLISLR-HYYFTVGWNIFDFVVV1575
SCN10ALNMITMMVETDDQSEEKTKILGKINQFFVA>V<FTGECVMKMFALR-QYYFTNGWNVFDFIVV1547
SCN11ALNMISMMAESYNQPKAMKSILDHLNWVFVV>I<FTLECLIKIFALR-QYYFTNGWNLFDCVVV1437
CACNA1ALNTIVLMMKFYGASVAYENALRVFNIVFTS>L<FSLECVLKVMAFGILNYFRDAWNIFDFVTV1638
CACNA1BLNTVVLMMKFYDAPYEYELMLKCLNIVFTS>M<FSMECVLKIIAFGVLNYFRDAWNVFDFVTV1544
CACNA1CLNTICLAMQHYGQSCLFKIAMNILNMLFTG>L<FTVEMILKLIAFKPKHYFCDAWNTFDALIV1291
CACNA1DLNTLCLAMQHYEQSKMFNDAMDILNMVFTG>V<FTVEMVLKVIAFKPKGYFSDAWNTFDSLIV1297
CACNA1ELNTVVLMMKYYSAPCTYELALKYLNIAFTM>V<FSLECVLKVIAFGFLNYFRDTWNIFDFITV1550
CACNA1FLNTVALAMQHYEQTAPFNYAMDILNMVFTG>L<FTIEMVLKIIAFKPKHYFTDAWNTFDALIV1262
CACNA1GLNVVTMAMEHYQQPQILDEALKICNYIFTV>I<FVLESVFKLVAFGFRRFFQDRWNQLDLAIV1683
CACNA1HVNVITMSMEHYNQPKSLDEALKYCNYVFTI>V<FVFEAALKLVAFGFRRFFKDRWNQLDLAIV1689
CACNA1ILNVVTMSLEHYNQPTSLETALKYCNYMFTT>V<FVLEAVLKLVAFGLRRFFKDRWNQLDLAIV1559
CACNA1SLNTICLGMQHYNQSEQMNHISDILNVAFTI>I<FTLEMILKLMAFKARGYFGDPWNVFDFLIV1190
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1570 for SCN5A.