Paralogue Annotation for CACNA1C residue 88

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 88
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 88

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	V95I	Brugada syndrome	Medium	4	17081365, 20877689, 23805106
SCN10A	V94G	Atrial fibrillation	Medium	4	25691686, 25691686

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	RQAKLMGSAGNATISTVSST-QRKRQQYG->K<PKKQGSTTATRPPRALLCLTLKNPIRRACI	118
CACNA1A	A-----------QRMYKQSMAQRARTMAL->Y<NPIPVRQNCLTVNRSLFLFSEDNVVRKYAK	92
CACNA1B	Q-----------RVLYKQSIAQRARTMAL->Y<NPIPVKQNCFTVNRSLFVFSEDNVVRKYAK	89
CACNA1D	RQAKAAQTMSTSAPPPVGSLSQRKRQQYA->K<SKKQGNSSNSRPARALFCLSLNNPIRRACI	120
CACNA1E	Q-----------AAAYKQTKAQRARTMAL->Y<NPIPVRQNCFTVNRSLFIFGEDNIVRKYAK	83
CACNA1F	V--------EGESSGASGLGTPKRRNQHS->K<HKTVAVASAQRSPRALFCLTLANPLRRSCI	86
CACNA1G	-----------PGSA-------EKDPG-SA>D<SEAEGLPYPALAPVVFFYLSQDSRPRSWCL	75
CACNA1H	-----------P-AA-------ERGAELG->A<DEEQRVPYPALAATVFFCLGQTTRPRSWCL	94
CACNA1I	-----------SPPG-------LEEPL-D->G<-ADPHVPHPDLAPIAFFCLRQTTSPRNWCI	73
CACNA1S	------------------SSPQDEGLRKK->Q<PKKPVPEILPRPPRALFCLTLENPLRKACI	45
SCN10A	FYGELPAELIGEPLEDLDPFYSTHR-TFM->V<LNKGRTISRFSATRALWLFSPFNLIRRTAI	124
SCN11A	LYGDIPRELIGKPLEDLDPFYRNHK-TFM->V<LNRKRTIYRFSAKHALFIFGPFNSIRSLAI	123
SCN1A	IYGDIPPEMVSEPLEDLDPYYINKK-TFI->V<LNKGKAIFRFSATSALYILTPFNPLRKIAI	122
SCN2A	IYGDIPPEMVSVPLEDLDPYYINKK-TFI->V<LNKGKAISRFSATPALYILTPFNPIRKLAI	123
SCN3A	IYGDIPPEMVSEPLEDLDPYYINKK-TFI->V<MNKGKAIFRFSATSALYILTPLNPVRKIAI	122
SCN4A	IYGDPPPEVIGIPLEDLDPYYSNKK-TFI->V<LNKGKAIFRFSATPALYLLSPFSVVRRGAI	125
SCN5A	LYGNPPQELIGEPLEDLDPFYSTQK-TFI->V<LNKGKTIFRFSATNALYVLSPFHPIRRAAV	125
SCN7A	IYGNLSQGMVSEPLEDVDPYYYKKKNTFI->V<LNKNRTIFRFNAASILCTLSPFNCIRRTTI	112
SCN8A	IYGDIPQGLVAVPLEDFDPYYLTQK-TFV->V<LNRGKTLFRFSATPALYILSPFNLIRRIAI	126
SCN9A	IYGDIPPGMVSEPLEDLDPYYADKK-TFI->V<LNKGKTIFRFNATPALYMLSPFSPLRRISI	120
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 88 for CACNA1C.