Paralogue Annotation for CACNA1C residue 83

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 83
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 83

No paralogue variants have been mapped to residue 83 for CACNA1C.

CACNA1C	AAIDAARQAKLMGSAGNATISTVSST-QRK>R<QQYG-KPKKQGSTTATRPPRALLCLTLKNP	112
CACNA1A	----PGA-----------QRMYKQSMAQRA>R<TMAL-YNPIPVRQNCLTVNRSLFLFSEDNV	86
CACNA1B	----PGQ-----------RVLYKQSIAQRA>R<TMAL-YNPIPVKQNCFTVNRSLFVFSEDNV	83
CACNA1D	AAIDAARQAKAAQTMSTSAPPPVGSLSQRK>R<QQYA-KSKKQGNSSNSRPARALFCLSLNNP	114
CACNA1E	----SGQ-----------AAAYKQTKAQRA>R<TMAL-YNPIPVRQNCFTVNRSLFIFGEDNI	77
CACNA1F	-----AV--------EGESSGASGLGTPKR>R<NQHS-KHKTVAVASAQRSPRALFCLTLANP	80
CACNA1G	-----G-----------PGSA-------EK>D<PG-SADSEAEGLPYPALAPVVFFYLSQDSR	69
CACNA1H	-----S-----------P-AA-------ER>G<AELG-ADEEQRVPYPALAATVFFCLGQTTR	88
CACNA1I	----PS-----------SPPG-------LE>E<PL-D-G-ADPHVPHPDLAPIAFFCLRQTTS	67
CACNA1S	------------------------SSPQDE>G<LRKK-QPKKPVPEILPRPPRALFCLTLENP	39
SCN10A	CNQLPKFYGELPAELIGEPLEDLDPFYSTH>R<-TFM-VLNKGRTISRFSATRALWLFSPFNL	118
SCN11A	SRKLPKLYGDIPRELIGKPLEDLDPFYRNH>K<-TFM-VLNRKRTIYRFSAKHALFIFGPFNS	117
SCN1A	GKNLPFIYGDIPPEMVSEPLEDLDPYYINK>K<-TFI-VLNKGKAIFRFSATSALYILTPFNP	116
SCN2A	GKSLPFIYGDIPPEMVSVPLEDLDPYYINK>K<-TFI-VLNKGKAISRFSATPALYILTPFNP	117
SCN3A	GKNLPFIYGDIPPEMVSEPLEDLDPYYINK>K<-TFI-VMNKGKAIFRFSATSALYILTPLNP	116
SCN4A	GKNLPMIYGDPPPEVIGIPLEDLDPYYSNK>K<-TFI-VLNKGKAIFRFSATPALYLLSPFSV	119
SCN5A	SKKLPDLYGNPPQELIGEPLEDLDPFYSTQ>K<-TFI-VLNKGKTIFRFSATNALYVLSPFHP	119
SCN7A	GKKLPFIYGNLSQGMVSEPLEDVDPYYYKK>K<NTFI-VLNKNRTIFRFNAASILCTLSPFNC	106
SCN8A	GKSLPFIYGDIPQGLVAVPLEDFDPYYLTQ>K<-TFV-VLNRGKTLFRFSATPALYILSPFNL	120
SCN9A	GKQLPFIYGDIPPGMVSEPLEDLDPYYADK>K<-TFI-VLNKGKTIFRFNATPALYMLSPFSP	114
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R83Q	c.248G>A	Putative Benign			SIFT: Polyphen:
p.Arg83Trp	c.247C>T	Unknown			SIFT: Polyphen: