Paralogue Annotation for CACNA1C residue 114

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 114
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 114

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR121WBrugada syndromeHigh9 19606473, 20395683, 22739120, 24136861
SCN5AR121QBrugada syndromeHigh9 20129283, 24136861
SCN1AR118SMyoclonic epilepsy of infancyHigh9 18413471
CACNA1FR82QCongenital stationary night blindnessHigh9 25307992
CACNA1FR82XNight blindness, congenital stationary, incompleteHigh9 11281458, 25525159

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.



CACNA1CQYG-KPKKQGSTTATRPPRALLCLTLKNPI>R<RACISIVEWKPFEIIILLTIFANCVALAIY144
CACNA1AMAL-YNPIPVRQNCLTVNRSLFLFSEDNVV>R<KYAKKITEWPPFEYMILATIIANCIVLALE118
CACNA1BMAL-YNPIPVKQNCFTVNRSLFVFSEDNVV>R<KYAKRITEWPPFEYMILATIIANCIVLALE115
CACNA1DQYA-KSKKQGNSSNSRPARALFCLSLNNPI>R<RACISIVEWKPFDIFILLAIFANCVALAIY146
CACNA1EMAL-YNPIPVRQNCFTVNRSLFIFGEDNIV>R<KYAKKLIDWPPFEYMILATIIANCIVLALE109
CACNA1FQHS-KHKTVAVASAQRSPRALFCLTLANPL>R<RSCISIVEWKPFDILILLTIFANCVALGVY112
CACNA1GG-SADSEAEGLPYPALAPVVFFYLSQDSRP>R<SWCLRTVCNPWFERISMLVILLNCVTLGMF101
CACNA1HELG-ADEEQRVPYPALAATVFFCLGQTTRP>R<SWCLRLVCNPWFEHVSMLVIMLNCVTLGMF120
CACNA1IL-D-G-ADPHVPHPDLAPIAFFCLRQTTSP>R<NWCIKMVCNPWFECVSMLVILLNCVTLGMY99
CACNA1SRKK-QPKKPVPEILPRPPRALFCLTLENPL>R<KACISIVEWKPFETIILLTIFANCVALAVY71
SCN10ATFM-VLNKGRTISRFSATRALWLFSPFNLI>R<RTAIKVSVHSWFSLFITVTILVNCVCMTRT150
SCN11ATFM-VLNRKRTIYRFSAKHALFIFGPFNSI>R<SLAIRVSVHSLFSMFIIGTVIINCVFMATG149
SCN1ATFI-VLNKGKAIFRFSATSALYILTPFNPL>R<KIAIKILVHSLFSMLIMCTILTNCVFMTMS148
SCN2ATFI-VLNKGKAISRFSATPALYILTPFNPI>R<KLAIKILVHSLFNMLIMCTILTNCVFMTMS149
SCN3ATFI-VMNKGKAIFRFSATSALYILTPLNPV>R<KIAIKILVHSLFSMLIMCTILTNCVFMTLS148
SCN4ATFI-VLNKGKAIFRFSATPALYLLSPFSVV>R<RGAIKVLIHALFSMFIMITILTNCVFMTMS151
SCN5ATFI-VLNKGKTIFRFSATNALYVLSPFHPI>R<RAAVKILVHSLFNMLIMCTILTNCVFMAQH151
SCN7ATFI-VLNKNRTIFRFNAASILCTLSPFNCI>R<RTTIKVLVHPFFQLFILISVLIDCVFMSLT138
SCN8ATFV-VLNRGKTLFRFSATPALYILSPFNLI>R<RIAIKILIHSVFSMIIMCTILTNCVFMTFS152
SCN9ATFI-VLNKGKTIFRFNATPALYMLSPFSPL>R<RISIKILVHSLFSMLIMCTILTNCIFMTMN146
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R114Wc.340C>T Putative BenignSIFT:
Polyphen: