Paralogue Annotation for CACNA1C residue 1251

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1251
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1251

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1560FLong QT syndromeMedium9 19716085
SCN2AL1563VNeonatal-infantile seizuresMedium9 12243921, 18479388

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.



CACNA1CFEYLMFVLILLNTICLAMQHYGQSCLFKIA>M<NILNMLFTGLFTVEMILKLIAFKPKHYFCD1281
CACNA1AFEYTIMAMIALNTIVLMMKFYGASVAYENA>L<RVFNIVFTSLFSLECVLKVMAFGILNYFRD1628
CACNA1BFEYFIMAMIALNTVVLMMKFYDAPYEYELM>L<KCLNIVFTSMFSMECVLKIIAFGVLNYFRD1534
CACNA1DFEYMMFVLIMLNTLCLAMQHYEQSKMFNDA>M<DILNMVFTGVFTVEMVLKVIAFKPKGYFSD1287
CACNA1EFEYTIMAMIALNTVVLMMKYYSAPCTYELA>L<KYLNIAFTMVFSLECVLKVIAFGFLNYFRD1540
CACNA1FFEYLMFLLILLNTVALAMQHYEQTAPFNYA>M<DILNMVFTGLFTIEMVLKIIAFKPKHYFTD1252
CACNA1GLDLFITGVIGLNVVTMAMEHYQQPQILDEA>L<KICNYIFTVIFVLESVFKLVAFGFRRFFQD1673
CACNA1HLDLFITFIICVNVITMSMEHYNQPKSLDEA>L<KYCNYVFTIVFVFEAALKLVAFGFRRFFKD1679
CACNA1ILDIFITFIICLNVVTMSLEHYNQPTSLETA>L<KYCNYMFTTVFVLEAVLKLVAFGLRRFFKD1549
CACNA1SFEYLMFALIMLNTICLGMQHYNQSEQMNHI>S<DILNVAFTIIFTLEMILKLMAFKARGYFGD1180
SCN10AFDITIMVLICLNMITMMVETDDQSEEKTKI>L<GKINQFFVAVFTGECVMKMFALR-QYYFTN1537
SCN11AFDIIIISLIILNMISMMAESYNQPKAMKSI>L<DHLNWVFVVIFTLECLIKIFALR-QYYFTN1427
SCN1AFDISIMILICLNMVTMMVETDDQSEYVTTI>L<SRINLVFIVLFTGECVLKLISLR-HYYFTI1602
SCN2AFDISIMILICLNMVTMMVETDDQSQEMTNI>L<YWINLVFIVLFTGECVLKLISLR-YYYFTI1592
SCN3AFDISIMILICLNMVTMMVETDDQGKYMTLV>L<SRINLVFIVLFTGEFVLKLVSLR-HYYFTI1587
SCN4AFDITIMILICLNMVTMMVETDNQSQLKVDI>L<YNINMIFIIIFTGECVLKMLALR-QYYFTV1414
SCN5AFDVTIMFLICLNMVTMMVETDDQSPEKINI>L<AKINLLFVAIFTGECIVKLAALR-HYYFTN1589
SCN7AFNVIVMVLICFQAIAMMIDTDVQSLQMSIA>L<YWINSIFVMLYTMECILKLIAFR-CFYFTI1312
SCN8AFDIVIMMLICLNMVTMMVETDTQSKQMENI>L<YWINLVFVIFFTCECVLKMFALR-HYYFTI1583
SCN9AFDISIMVLICLNMVTMMVEKEGQSQHMTEV>L<YWINVVFIILFTGECVLKLISLR-HYYFTV1565
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1251 for CACNA1C.