Paralogue Annotation for CACNA1C residue 1257

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1257
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1257

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1579EDravet syndromeMedium9 18930999

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.



CACNA1CVLILLNTICLAMQHYGQSCLFKIAMNILNM>L<FTGLFTVEMILKLIAFKPKHYFCDAWNTFD1287
CACNA1AAMIALNTIVLMMKFYGASVAYENALRVFNI>V<FTSLFSLECVLKVMAFGILNYFRDAWNIFD1634
CACNA1BAMIALNTVVLMMKFYDAPYEYELMLKCLNI>V<FTSMFSMECVLKIIAFGVLNYFRDAWNVFD1540
CACNA1DVLIMLNTLCLAMQHYEQSKMFNDAMDILNM>V<FTGVFTVEMVLKVIAFKPKGYFSDAWNTFD1293
CACNA1EAMIALNTVVLMMKYYSAPCTYELALKYLNI>A<FTMVFSLECVLKVIAFGFLNYFRDTWNIFD1546
CACNA1FLLILLNTVALAMQHYEQTAPFNYAMDILNM>V<FTGLFTIEMVLKIIAFKPKHYFTDAWNTFD1258
CACNA1GGVIGLNVVTMAMEHYQQPQILDEALKICNY>I<FTVIFVLESVFKLVAFGFRRFFQDRWNQLD1679
CACNA1HFIICVNVITMSMEHYNQPKSLDEALKYCNY>V<FTIVFVFEAALKLVAFGFRRFFKDRWNQLD1685
CACNA1IFIICLNVVTMSLEHYNQPTSLETALKYCNY>M<FTTVFVLEAVLKLVAFGLRRFFKDRWNQLD1555
CACNA1SALIMLNTICLGMQHYNQSEQMNHISDILNV>A<FTIIFTLEMILKLMAFKARGYFGDPWNVFD1186
SCN10AVLICLNMITMMVETDDQSEEKTKILGKINQ>F<FVAVFTGECVMKMFALR-QYYFTNGWNVFD1543
SCN11ASLIILNMISMMAESYNQPKAMKSILDHLNW>V<FVVIFTLECLIKIFALR-QYYFTNGWNLFD1433
SCN1AILICLNMVTMMVETDDQSEYVTTILSRINL>V<FIVLFTGECVLKLISLR-HYYFTIGWNIFD1608
SCN2AILICLNMVTMMVETDDQSQEMTNILYWINL>V<FIVLFTGECVLKLISLR-YYYFTIGWNIFD1598
SCN3AILICLNMVTMMVETDDQGKYMTLVLSRINL>V<FIVLFTGEFVLKLVSLR-HYYFTIGWNIFD1593
SCN4AILICLNMVTMMVETDNQSQLKVDILYNINM>I<FIIIFTGECVLKMLALR-QYYFTVGWNIFD1420
SCN5AFLICLNMVTMMVETDDQSPEKINILAKINL>L<FVAIFTGECIVKLAALR-HYYFTNSWNIFD1595
SCN7AVLICFQAIAMMIDTDVQSLQMSIALYWINS>I<FVMLYTMECILKLIAFR-CFYFTIAWNIFD1318
SCN8AMLICLNMVTMMVETDTQSKQMENILYWINL>V<FVIFFTCECVLKMFALR-HYYFTIGWNIFD1589
SCN9AVLICLNMVTMMVEKEGQSQHMTEVLYWINV>V<FIILFTGECVLKLISLR-HYYFTVGWNIFD1571
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1257 for CACNA1C.