Paralogue Annotation for CACNA1C residue 1253

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1253
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1253

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR1575CRasmussen encephalitisMedium9 18031552, 21868258, 22309220, 23195492, 20675100
SCN9AW1538RChronic non-paroxysmal neuropathic painMedium9 21094958, 23292638, 23895530

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.



CACNA1CYLMFVLILLNTICLAMQHYGQSCLFKIAMN>I<LNMLFTGLFTVEMILKLIAFKPKHYFCDAW1283
CACNA1AYTIMAMIALNTIVLMMKFYGASVAYENALR>V<FNIVFTSLFSLECVLKVMAFGILNYFRDAW1630
CACNA1BYFIMAMIALNTVVLMMKFYDAPYEYELMLK>C<LNIVFTSMFSMECVLKIIAFGVLNYFRDAW1536
CACNA1DYMMFVLIMLNTLCLAMQHYEQSKMFNDAMD>I<LNMVFTGVFTVEMVLKVIAFKPKGYFSDAW1289
CACNA1EYTIMAMIALNTVVLMMKYYSAPCTYELALK>Y<LNIAFTMVFSLECVLKVIAFGFLNYFRDTW1542
CACNA1FYLMFLLILLNTVALAMQHYEQTAPFNYAMD>I<LNMVFTGLFTIEMVLKIIAFKPKHYFTDAW1254
CACNA1GLFITGVIGLNVVTMAMEHYQQPQILDEALK>I<CNYIFTVIFVLESVFKLVAFGFRRFFQDRW1675
CACNA1HLFITFIICVNVITMSMEHYNQPKSLDEALK>Y<CNYVFTIVFVFEAALKLVAFGFRRFFKDRW1681
CACNA1IIFITFIICLNVVTMSLEHYNQPTSLETALK>Y<CNYMFTTVFVLEAVLKLVAFGLRRFFKDRW1551
CACNA1SYLMFALIMLNTICLGMQHYNQSEQMNHISD>I<LNVAFTIIFTLEMILKLMAFKARGYFGDPW1182
SCN10AITIMVLICLNMITMMVETDDQSEEKTKILG>K<INQFFVAVFTGECVMKMFALR-QYYFTNGW1539
SCN11AIIIISLIILNMISMMAESYNQPKAMKSILD>H<LNWVFVVIFTLECLIKIFALR-QYYFTNGW1429
SCN1AISIMILICLNMVTMMVETDDQSEYVTTILS>R<INLVFIVLFTGECVLKLISLR-HYYFTIGW1604
SCN2AISIMILICLNMVTMMVETDDQSQEMTNILY>W<INLVFIVLFTGECVLKLISLR-YYYFTIGW1594
SCN3AISIMILICLNMVTMMVETDDQGKYMTLVLS>R<INLVFIVLFTGEFVLKLVSLR-HYYFTIGW1589
SCN4AITIMILICLNMVTMMVETDNQSQLKVDILY>N<INMIFIIIFTGECVLKMLALR-QYYFTVGW1416
SCN5AVTIMFLICLNMVTMMVETDDQSPEKINILA>K<INLLFVAIFTGECIVKLAALR-HYYFTNSW1591
SCN7AVIVMVLICFQAIAMMIDTDVQSLQMSIALY>W<INSIFVMLYTMECILKLIAFR-CFYFTIAW1314
SCN8AIVIMMLICLNMVTMMVETDTQSKQMENILY>W<INLVFVIFFTCECVLKMFALR-HYYFTIGW1585
SCN9AISIMVLICLNMVTMMVEKEGQSQHMTEVLY>W<INVVFIILFTGECVLKLISLR-HYYFTVGW1567
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1253 for CACNA1C.