Paralogue Annotation for CACNA1C residue 450

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 450
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 450

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	A405T	Spinocerebellar ataxia 6	Low	2	20682717

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	LDWITQA-ED-----------------IDP>E<NEDEG-------------------------	455
CACNA1A	MEWISKA-EE-----------------VIL>A<EDETD-------------------------	410
CACNA1B	LEWIFKA-EE-----------------VML>A<EEDRN-------------------------	406
CACNA1D	LDWITQA-ED-----------------IDP>E<NEEEG-------------------------	456
CACNA1E	RAWIDKA-EE-----------------VML>A<EENKN-------------------------	401
CACNA1F	LDWITQA-EE-----------------LDM>E<DPSAD------------------------D	423
CACNA1G	LVYILRKAAR-------------RLAQVSR>A<--AGVR-----------------------V	462
CACNA1H	VGHIFRKVKR-------------RSLRLYA>R<W-QSRW-----------------------R	487
CACNA1I	VCHILRKAKR-------------RALGLYQ>A<L-QSRR-----------------------Q	465
CACNA1S	MSWITQG-EV-----------------MDV>E<DFREG-------------------------	384
SCN10A	QEVLAALGIDTTS----------------->-<---LHSHNGSPLTSKNASERRHRIKPRV--	466
SCN11A	KEALVAMGIDRSS----------------->-<---LTSLETSYFTPKKRKLFGNKKRKS---	468
SCN1A	QEAAQQAATATAS----EHSREPSAAGRL->-<--SDSSSEASKLSSKSAKERRNRRKKRKQK	507
SCN2A	QEEAQAAAAAASA-----ESRDFSGAGGIG>V<F-SESSSVASKLSSKSEKELKNRRKKKKQK	511
SCN3A	QEEAQAVAAASAA------SRDFSGIGGLG>E<L-LESSSEASKLSSKSAKEWRNRRKKRRQR	509
SCN4A	QEELEKAKAAQAL----------------->-<------------------------------	491
SCN5A	HEALTIRGVDTVS----------------->-<---RSSLEMSPLAPVNSHERRSKRRKR---	481
SCN7A	NETDEAK----------------------->-<------------------------------	432
SCN8A	QEEAQAAAMATSAGTVSEDAIEEEGEEGG->G<S-PRSSSEISKLSSKSAKERRNRRKKRKQK	501
SCN9A	QEEAEAIAAAAAE----YTSIRRSRIMGL->-<--SESSSETSKLSSKSAKERRNRRKKKNQK	486
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E450Q	c.1348G>C	Putative Benign		rs369680588	SIFT: tolerated Polyphen: possibly damaging