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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R121W	Brugada syndrome	High	9	19606473, 20395683, 22739120, 24136861
SCN5A	R121Q	Brugada syndrome	High	9	20129283, 24136861
SCN1A	R118S	Myoclonic epilepsy of infancy	High	9	18413471
CACNA1F	R82Q	Congenital stationary night blindness	High	9	25307992
CACNA1F	R82X	Night blindness, congenital stationary, incomplete	High	9	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.

CACNA1C	QYG-KPKKQGSTTATRPPRALLCLTLKNPI>R<RACISIVEWKPFEIIILLTIFANCVALAIY	144
CACNA1A	MAL-YNPIPVRQNCLTVNRSLFLFSEDNVV>R<KYAKKITEWPPFEYMILATIIANCIVLALE	118
CACNA1B	MAL-YNPIPVKQNCFTVNRSLFVFSEDNVV>R<KYAKRITEWPPFEYMILATIIANCIVLALE	115
CACNA1D	QYA-KSKKQGNSSNSRPARALFCLSLNNPI>R<RACISIVEWKPFDIFILLAIFANCVALAIY	146
CACNA1E	MAL-YNPIPVRQNCFTVNRSLFIFGEDNIV>R<KYAKKLIDWPPFEYMILATIIANCIVLALE	109
CACNA1F	QHS-KHKTVAVASAQRSPRALFCLTLANPL>R<RSCISIVEWKPFDILILLTIFANCVALGVY	112
CACNA1G	G-SADSEAEGLPYPALAPVVFFYLSQDSRP>R<SWCLRTVCNPWFERISMLVILLNCVTLGMF	101
CACNA1H	ELG-ADEEQRVPYPALAATVFFCLGQTTRP>R<SWCLRLVCNPWFEHVSMLVIMLNCVTLGMF	120
CACNA1I	L-D-G-ADPHVPHPDLAPIAFFCLRQTTSP>R<NWCIKMVCNPWFECVSMLVILLNCVTLGMY	99
CACNA1S	RKK-QPKKPVPEILPRPPRALFCLTLENPL>R<KACISIVEWKPFETIILLTIFANCVALAVY	71
SCN10A	TFM-VLNKGRTISRFSATRALWLFSPFNLI>R<RTAIKVSVHSWFSLFITVTILVNCVCMTRT	150
SCN11A	TFM-VLNRKRTIYRFSAKHALFIFGPFNSI>R<SLAIRVSVHSLFSMFIIGTVIINCVFMATG	149
SCN1A	TFI-VLNKGKAIFRFSATSALYILTPFNPL>R<KIAIKILVHSLFSMLIMCTILTNCVFMTMS	148
SCN2A	TFI-VLNKGKAISRFSATPALYILTPFNPI>R<KLAIKILVHSLFNMLIMCTILTNCVFMTMS	149
SCN3A	TFI-VMNKGKAIFRFSATSALYILTPLNPV>R<KIAIKILVHSLFSMLIMCTILTNCVFMTLS	148
SCN4A	TFI-VLNKGKAIFRFSATPALYLLSPFSVV>R<RGAIKVLIHALFSMFIMITILTNCVFMTMS	151
SCN5A	TFI-VLNKGKTIFRFSATNALYVLSPFHPI>R<RAAVKILVHSLFNMLIMCTILTNCVFMAQH	151
SCN7A	TFI-VLNKNRTIFRFNAASILCTLSPFNCI>R<RTTIKVLVHPFFQLFILISVLIDCVFMSLT	138
SCN8A	TFV-VLNRGKTLFRFSATPALYILSPFNLI>R<RIAIKILIHSVFSMIIMCTILTNCVFMTFS	152
SCN9A	TFI-VLNKGKTIFRFNATPALYMLSPFSPL>R<RISIKILVHSLFSMLIMCTILTNCIFMTMN	146
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See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R114W	c.340C>T	Putative Benign			SIFT: Polyphen: