Paralogue Annotation for CACNA1C residue 1264

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1264
Reference Amino Acid: V - Valine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1264

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1586EDravet 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.



CACNA1CICLAMQHYGQSCLFKIAMNILNMLFTGLFT>V<EMILKLIAFKPKHYFCDAWNTFDALIVVGS1294
CACNA1AIVLMMKFYGASVAYENALRVFNIVFTSLFS>L<ECVLKVMAFGILNYFRDAWNIFDFVTVLGS1641
CACNA1BVVLMMKFYDAPYEYELMLKCLNIVFTSMFS>M<ECVLKIIAFGVLNYFRDAWNVFDFVTVLGS1547
CACNA1DLCLAMQHYEQSKMFNDAMDILNMVFTGVFT>V<EMVLKVIAFKPKGYFSDAWNTFDSLIVIGS1300
CACNA1EVVLMMKYYSAPCTYELALKYLNIAFTMVFS>L<ECVLKVIAFGFLNYFRDTWNIFDFITVIGS1553
CACNA1FVALAMQHYEQTAPFNYAMDILNMVFTGLFT>I<EMVLKIIAFKPKHYFTDAWNTFDALIVVGS1265
CACNA1GVTMAMEHYQQPQILDEALKICNYIFTVIFV>L<ESVFKLVAFGFRRFFQDRWNQLDLAIVLLS1686
CACNA1HITMSMEHYNQPKSLDEALKYCNYVFTIVFV>F<EAALKLVAFGFRRFFKDRWNQLDLAIVLLS1692
CACNA1IVTMSLEHYNQPTSLETALKYCNYMFTTVFV>L<EAVLKLVAFGLRRFFKDRWNQLDLAIVLLS1562
CACNA1SICLGMQHYNQSEQMNHISDILNVAFTIIFT>L<EMILKLMAFKARGYFGDPWNVFDFLIVIGS1193
SCN10AITMMVETDDQSEEKTKILGKINQFFVAVFT>G<ECVMKMFALR-QYYFTNGWNVFDFIVVVLS1550
SCN11AISMMAESYNQPKAMKSILDHLNWVFVVIFT>L<ECLIKIFALR-QYYFTNGWNLFDCVVVLLS1440
SCN1AVTMMVETDDQSEYVTTILSRINLVFIVLFT>G<ECVLKLISLR-HYYFTIGWNIFDFVVVILS1615
SCN2AVTMMVETDDQSQEMTNILYWINLVFIVLFT>G<ECVLKLISLR-YYYFTIGWNIFDFVVVILS1605
SCN3AVTMMVETDDQGKYMTLVLSRINLVFIVLFT>G<EFVLKLVSLR-HYYFTIGWNIFDFVVVILS1600
SCN4AVTMMVETDNQSQLKVDILYNINMIFIIIFT>G<ECVLKMLALR-QYYFTVGWNIFDFVVVILS1427
SCN5AVTMMVETDDQSPEKINILAKINLLFVAIFT>G<ECIVKLAALR-HYYFTNSWNIFDFVVVILS1602
SCN7AIAMMIDTDVQSLQMSIALYWINSIFVMLYT>M<ECILKLIAFR-CFYFTIAWNIFDFMVVIFS1325
SCN8AVTMMVETDTQSKQMENILYWINLVFVIFFT>C<ECVLKMFALR-HYYFTIGWNIFDFVVVILS1596
SCN9AVTMMVEKEGQSQHMTEVLYWINVVFIILFT>G<ECVLKLISLR-HYYFTVGWNIFDFVVVIIS1578
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1264Mc.3790G>A Putative BenignSIFT:
Polyphen:
p.V1264Lc.3790G>T UnknownSIFT: tolerated
Polyphen: probably damaging