Paralogue Annotation for SCN5A residue 1568

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1568
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1568

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AI1393TParamyotonia congenitaMedium9 19882638

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.



SCN5AICLNMVTMMVETDDQSPEKINILAKINLLF>V<AIFTGECIVKLAALR-HYYFTNSWNIFDFV1597
SCN1AICLNMVTMMVETDDQSEYVTTILSRINLVF>I<VLFTGECVLKLISLR-HYYFTIGWNIFDFV1610
SCN2AICLNMVTMMVETDDQSQEMTNILYWINLVF>I<VLFTGECVLKLISLR-YYYFTIGWNIFDFV1600
SCN3AICLNMVTMMVETDDQGKYMTLVLSRINLVF>I<VLFTGEFVLKLVSLR-HYYFTIGWNIFDFV1595
SCN4AICLNMVTMMVETDNQSQLKVDILYNINMIF>I<IIFTGECVLKMLALR-QYYFTVGWNIFDFV1422
SCN7AICFQAIAMMIDTDVQSLQMSIALYWINSIF>V<MLYTMECILKLIAFR-CFYFTIAWNIFDFM1320
SCN8AICLNMVTMMVETDTQSKQMENILYWINLVF>V<IFFTCECVLKMFALR-HYYFTIGWNIFDFV1591
SCN9AICLNMVTMMVEKEGQSQHMTEVLYWINVVF>I<ILFTGECVLKLISLR-HYYFTVGWNIFDFV1573
SCN10AICLNMITMMVETDDQSEEKTKILGKINQFF>V<AVFTGECVMKMFALR-QYYFTNGWNVFDFI1545
SCN11AIILNMISMMAESYNQPKAMKSILDHLNWVF>V<VIFTLECLIKIFALR-QYYFTNGWNLFDCV1435
CACNA1AIALNTIVLMMKFYGASVAYENALRVFNIVF>T<SLFSLECVLKVMAFGILNYFRDAWNIFDFV1636
CACNA1BIALNTVVLMMKFYDAPYEYELMLKCLNIVF>T<SMFSMECVLKIIAFGVLNYFRDAWNVFDFV1542
CACNA1CILLNTICLAMQHYGQSCLFKIAMNILNMLF>T<GLFTVEMILKLIAFKPKHYFCDAWNTFDAL1289
CACNA1DIMLNTLCLAMQHYEQSKMFNDAMDILNMVF>T<GVFTVEMVLKVIAFKPKGYFSDAWNTFDSL1295
CACNA1EIALNTVVLMMKYYSAPCTYELALKYLNIAF>T<MVFSLECVLKVIAFGFLNYFRDTWNIFDFI1548
CACNA1FILLNTVALAMQHYEQTAPFNYAMDILNMVF>T<GLFTIEMVLKIIAFKPKHYFTDAWNTFDAL1260
CACNA1GIGLNVVTMAMEHYQQPQILDEALKICNYIF>T<VIFVLESVFKLVAFGFRRFFQDRWNQLDLA1681
CACNA1HICVNVITMSMEHYNQPKSLDEALKYCNYVF>T<IVFVFEAALKLVAFGFRRFFKDRWNQLDLA1687
CACNA1IICLNVVTMSLEHYNQPTSLETALKYCNYMF>T<TVFVLEAVLKLVAFGLRRFFKDRWNQLDLA1557
CACNA1SIMLNTICLGMQHYNQSEQMNHISDILNVAF>T<IIFTLEMILKLMAFKARGYFGDPWNVFDFL1188
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1568 for SCN5A.