Paralogue Annotation for CACNA1C residue 1210

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1210
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1210

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AG1522AEpileptic encephalopathyMedium9 25818041, 26445390

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.



CACNA1C------KARP-------LRRYIPK--NQHQ>Y<KVWYVVNSTYFEYLMFVLILLNTICLAMQH1240
CACNA1A------SAKP-------LTRHMPQNKQSFQ>Y<RMWQFVVSPPFEYTIMAMIALNTIVLMMKF1587
CACNA1B------SAKP-------LTRYMPQNRQSFQ>Y<KTWTFVVSPPFEYFIMAMIALNTVVLMMKF1493
CACNA1D------KARP-------LRRYIPK--NPYQ>Y<KFWYVVNSSPFEYMMFVLIMLNTLCLAMQH1246
CACNA1E------SAKP-------LTRYMPQNRHTFQ>Y<RVWHFVVSPSFEYTIMAMIALNTVVLMMKY1499
CACNA1F------KAQP-------LRRYIPK--NPHQ>Y<RVWATVNSAAFEYLMFLLILLNTVALAMQH1211
CACNA1G-----ASGSSASAASEAQCKPYYSDYSRFR>L<LVHHLCTSHYLDLFITGVIGLNVVTMAMEH1632
CACNA1HSTFPSPEAQ---------RRPYYADYSPTR>R<SIHSLCTSHYLDLFITFIICVNVITMSMEH1638
CACNA1I------KAQ---------RLPYYATYCHTR>L<LIHSMCTSHYLDIFITFIICLNVVTMSLEH1508
CACNA1S------KARP-------LRCYIPK--NPYQ>Y<QVWYIVTSSYFEYLMFALIMLNTICLGMQH1139
SCN10A----G-SKKP--------QKPIPRPLNKFQ>G<FVFDIVTRQAFDITIMVLICLNMITMMVET1497
SCN11A----G-SKKP--------QKPIPRPLNKCQ>G<LVFDIVTSQIFDIIIISLIILNMISMMAES1387
SCN1A----G-SKKP--------QKPIPRPGNKFQ>G<MVFDFVTRQVFDISIMILICLNMVTMMVET1562
SCN2A----G-SKKP--------QKPIPRPANKFQ>G<MVFDFVTKQVFDISIMILICLNMVTMMVET1552
SCN3A----G-SKKP--------QKPIPRPANKFQ>G<MVFDFVTRQVFDISIMILICLNMVTMMVET1547
SCN4A----G-SKKP--------QKPIPRPQNKIQ>G<MVYDLVTKQAFDITIMILICLNMVTMMVET1374
SCN5A----G-SKKP--------QKPIPRPLNKYQ>G<FIFDIVTKQAFDVTIMFLICLNMVTMMVET1549
SCN7A----M-YEDS--------QRPVPRPLNKLQ>G<FIFDVVTSQAFNVIVMVLICFQAIAMMIDT1272
SCN8A----G-SKKP--------QKPIPRPLNKIQ>G<IVFDFVTQQAFDIVIMMLICLNMVTMMVET1543
SCN9A----G-SKKP--------QKPIPRPGNKIQ>G<CIFDLVTNQAFDISIMVLICLNMVTMMVEK1525
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1210 for CACNA1C.