Paralogue Annotation for CACNA1C residue 1205

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1205
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1205

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1512WBrugada syndromeMedium5 10690282, 10727653, 15851227, 20129283, 26111534
SCN4AR1337PMyotonia, sodium channelMedium5 25088311

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---EYAL------KARP-------LRRYIP>K<--NQHQYKVWYVVNSTYFEYLMFVLILLNT1233
CACNA1A---DFAI------SAKP-------LTRHMP>Q<NKQSFQYRMWQFVVSPPFEYTIMAMIALNT1580
CACNA1B---DFAI------SAKP-------LTRYMP>Q<NRQSFQYKTWTFVVSPPFEYFIMAMIALNT1486
CACNA1D---EYAL------KARP-------LRRYIP>K<--NPYQYKFWYVVNSSPFEYMMFVLIMLNT1239
CACNA1E---DFAI------SAKP-------LTRYMP>Q<NRHTFQYRVWHFVVSPSFEYTIMAMIALNT1492
CACNA1F---EYAL------KAQP-------LRRYIP>K<--NPHQYRVWATVNSAAFEYLMFLLILLNT1204
CACNA1GL--DDVI-----ASGSSASAASEAQCKPYY>S<DYSRFRLLVHHLCTSHYLDLFITGVIGLNV1625
CACNA1HRLERRRRSTFPSPEAQ---------RRPYY>A<DYSPTRRSIHSLCTSHYLDLFITFIICVNV1631
CACNA1IRLEKKRR------KAQ---------RLPYY>A<TYCHTRLLIHSMCTSHYLDIFITFIICLNV1501
CACNA1S---QYAL------KARP-------LRCYIP>K<--NPYQYQVWYIVTSSYFEYLMFALIMLNT1132
SCN10A---KK-L----G-SKKP--------QKPIP>R<PLNKFQGFVFDIVTRQAFDITIMVLICLNM1490
SCN11A---KK-L----G-SKKP--------QKPIP>R<PLNKCQGLVFDIVTSQIFDIIIISLIILNM1380
SCN1A---KK-L----G-SKKP--------QKPIP>R<PGNKFQGMVFDFVTRQVFDISIMILICLNM1555
SCN2A---KK-L----G-SKKP--------QKPIP>R<PANKFQGMVFDFVTKQVFDISIMILICLNM1545
SCN3A---KK-L----G-SKKP--------QKPIP>R<PANKFQGMVFDFVTRQVFDISIMILICLNM1540
SCN4A---KK-L----G-SKKP--------QKPIP>R<PQNKIQGMVYDLVTKQAFDITIMILICLNM1367
SCN5A---KK-L----G-SKKP--------QKPIP>R<PLNKYQGFIFDIVTKQAFDVTIMFLICLNM1542
SCN7A---KK-L----M-YEDS--------QRPVP>R<PLNKLQGFIFDVVTSQAFNVIVMVLICFQA1265
SCN8A---KK-L----G-SKKP--------QKPIP>R<PLNKIQGIVFDFVTQQAFDIVIMMLICLNM1536
SCN9A---KK-L----G-SKKP--------QKPIP>R<PGNKIQGCIFDLVTNQAFDISIMVLICLNM1518
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1205Rc.3614A>G Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.K1205Nc.3615G>C Putative BenignSIFT:
Polyphen: