Paralogue Annotation for CACNA1C residue 1259

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1259
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1259

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 CACNA1C.



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

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1259 for CACNA1C.