Paralogue Annotation for CACNA1C residue 77

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 77
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 77

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	D84N	Brugada syndrome	Medium	3	20129283
SCN1A	D81N	Dravet syndrome	Medium	3	27236449
SCN1A	D81E	Dravet syndrome	Medium	3	26169758

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	GAALSWQAAIDAARQAKLMGSAGNATISTV>S<ST-QRKRQQYG-KPKKQGSTTATRPPRALL	105
CACNA1A	GGQ--------PGA-----------QRMYK>Q<SMAQRARTMAL-YNPIPVRQNCLTVNRSLF	79
CACNA1B	GGLQ-------PGQ-----------RVLYK>Q<SIAQRARTMAL-YNPIPVKQNCFTVNRSLF	76
CACNA1D	QTVLSWQAAIDAARQAKAAQTMSTSAPPPV>G<SLSQRKRQQYA-KSKKQGNSSNSRPARALF	107
CACNA1E	A----------SGQ-----------AAAYK>Q<TKAQRARTMAL-YNPIPVRQNCFTVNRSLF	70
CACNA1F	----P-------AV--------EGESSGAS>G<LGTPKRRNQHS-KHKTVAVASAQRSPRALF	73
CACNA1G	P-----------G-----------PGSA-->-<----EKDPG-SADSEAEGLPYPALAPVVFF	62
CACNA1H	E-----------S-----------P-AA-->-<----ERGAELG-ADEEQRVPYPALAATVFF	81
CACNA1I	S--P-------PS-----------SPPG-->-<----LEEPL-D-G-ADPHVPHPDLAPIAFF	60
CACNA1S	------------------------------>-<SSPQDEGLRKK-QPKKPVPEILPRPPRALF	32
SCN10A	PQLDLKACNQLPKFYGELPAELIGEPLEDL>D<PFYSTHR-TFM-VLNKGRTISRFSATRALW	111
SCN11A	PQLDLKASRKLPKLYGDIPRELIGKPLEDL>D<PFYRNHK-TFM-VLNRKRTIYRFSAKHALF	110
SCN1A	PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL>D<PYYINKK-TFI-VLNKGKAIFRFSATSALY	109
SCN2A	PNSDLEAGKSLPFIYGDIPPEMVSVPLEDL>D<PYYINKK-TFI-VLNKGKAISRFSATPALY	110
SCN3A	PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL>D<PYYINKK-TFI-VMNKGKAIFRFSATSALY	109
SCN4A	PRSDLEAGKNLPMIYGDPPPEVIGIPLEDL>D<PYYSNKK-TFI-VLNKGKAIFRFSATPALY	112
SCN5A	PQLDLQASKKLPDLYGNPPQELIGEPLEDL>D<PFYSTQK-TFI-VLNKGKTIFRFSATNALY	112
SCN7A	PTPDLEVGKKLPFIYGNLSQGMVSEPLEDV>D<PYYYKKKNTFI-VLNKNRTIFRFNAASILC	99
SCN8A	PNSDLEAGKSLPFIYGDIPQGLVAVPLEDF>D<PYYLTQK-TFV-VLNRGKTLFRFSATPALY	113
SCN9A	PSSDLEAGKQLPFIYGDIPPGMVSEPLEDL>D<PYYADKK-TFI-VLNKGKTIFRFNATPALY	107
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S77I	c.230G>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging