Paralogue Annotation for CACNA1C residue 1254

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1254
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1254

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1576TPhenotype modifierMedium9 25986186

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.



CACNA1CLMFVLILLNTICLAMQHYGQSCLFKIAMNI>L<NMLFTGLFTVEMILKLIAFKPKHYFCDAWN1284
CACNA1ATIMAMIALNTIVLMMKFYGASVAYENALRV>F<NIVFTSLFSLECVLKVMAFGILNYFRDAWN1631
CACNA1BFIMAMIALNTVVLMMKFYDAPYEYELMLKC>L<NIVFTSMFSMECVLKIIAFGVLNYFRDAWN1537
CACNA1DMMFVLIMLNTLCLAMQHYEQSKMFNDAMDI>L<NMVFTGVFTVEMVLKVIAFKPKGYFSDAWN1290
CACNA1ETIMAMIALNTVVLMMKYYSAPCTYELALKY>L<NIAFTMVFSLECVLKVIAFGFLNYFRDTWN1543
CACNA1FLMFLLILLNTVALAMQHYEQTAPFNYAMDI>L<NMVFTGLFTIEMVLKIIAFKPKHYFTDAWN1255
CACNA1GFITGVIGLNVVTMAMEHYQQPQILDEALKI>C<NYIFTVIFVLESVFKLVAFGFRRFFQDRWN1676
CACNA1HFITFIICVNVITMSMEHYNQPKSLDEALKY>C<NYVFTIVFVFEAALKLVAFGFRRFFKDRWN1682
CACNA1IFITFIICLNVVTMSLEHYNQPTSLETALKY>C<NYMFTTVFVLEAVLKLVAFGLRRFFKDRWN1552
CACNA1SLMFALIMLNTICLGMQHYNQSEQMNHISDI>L<NVAFTIIFTLEMILKLMAFKARGYFGDPWN1183
SCN10ATIMVLICLNMITMMVETDDQSEEKTKILGK>I<NQFFVAVFTGECVMKMFALR-QYYFTNGWN1540
SCN11AIIISLIILNMISMMAESYNQPKAMKSILDH>L<NWVFVVIFTLECLIKIFALR-QYYFTNGWN1430
SCN1ASIMILICLNMVTMMVETDDQSEYVTTILSR>I<NLVFIVLFTGECVLKLISLR-HYYFTIGWN1605
SCN2ASIMILICLNMVTMMVETDDQSQEMTNILYW>I<NLVFIVLFTGECVLKLISLR-YYYFTIGWN1595
SCN3ASIMILICLNMVTMMVETDDQGKYMTLVLSR>I<NLVFIVLFTGEFVLKLVSLR-HYYFTIGWN1590
SCN4ATIMILICLNMVTMMVETDNQSQLKVDILYN>I<NMIFIIIFTGECVLKMLALR-QYYFTVGWN1417
SCN5ATIMFLICLNMVTMMVETDDQSPEKINILAK>I<NLLFVAIFTGECIVKLAALR-HYYFTNSWN1592
SCN7AIVMVLICFQAIAMMIDTDVQSLQMSIALYW>I<NSIFVMLYTMECILKLIAFR-CFYFTIAWN1315
SCN8AVIMMLICLNMVTMMVETDTQSKQMENILYW>I<NLVFVIFFTCECVLKMFALR-HYYFTIGWN1586
SCN9ASIMVLICLNMVTMMVEKEGQSQHMTEVLYW>I<NVVFIILFTGECVLKLISLR-HYYFTVGWN1568
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1254 for CACNA1C.