Paralogue Annotation for CACNA1C residue 1906

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1906
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1906

No paralogue variants have been mapped to residue 1906 for CACNA1C.

CACNA1C	RQSPKRGFLRSA-SL-GR-R-ASFHLECLK>R<QKDRGGDIS-----Q---------------	1916
CACNA1A	DLSMTTQSGDLP------SK-ERDQERGRP>K<DR----------------------------	2206
CACNA1B	AVGPGLPPGEGPTGC-RRER-ERRQERGRS>Q<ERRQPSSSSS----EKQRFYSCDRFGGREP	2139
CACNA1D	RRSPRRRLLPPT-PASHR-R-SSFNFECLR>R<QSSQEEVPSSPIFPH---------------	1965
CACNA1E	DT----------------HR-SGGRERGRS>K<ERKHLLSPDV----SRCN--SEER-GTQAD	2110
CACNA1F	HLVPRRRLLPPT-PA-GR-K-PSFTIQCLQ>R<QGSCEDLPIPGTY-----------------	1823
CACNA1G	HSKISKHMTPPA-PCPGP-E-PNWGKGPPE>T<RSSLELDTE---------------------	2220
CACNA1H	-----------G-PEASP-V-AGGE----->-<------------------------------	2129
CACNA1I	----RRALGPPA-PAPGP-R-AGLS----->-<------------------------------	2060
CACNA1S	PATRGRALGQPCRVL-GP-H-SKPCVEMLK>G<------------------------------	1724
SCN10A	-------------RG-LSDR-VNMRT---->-<------------------------------	1936
SCN11A	-------------SF-GVAK---------->-<------------------------------	1785
SCN1A	-------------KP-IVEK-HE------->-<------------------------------	1998
SCN2A	-------------KP-EKEK-FE------->-<------------------------------	1987
SCN3A	-------------KP-DKEK-FE------->-<------------------------------	1982
SCN4A	-------------IS-PSDTAWP------->-<------------------------------	1818
SCN5A	-------------RA-TSDN-LQVRG---->-<------------------------------	1992
SCN7A	-------------------K---------->-<------------------------------	1675
SCN8A	-------------KP-EKEK-QQRAE---->-<------------------------------	1962
SCN9A	-------------KP-DKEK-YE------->-<------------------------------	1959
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See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1906Q	c.5717G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916
p.R1906L	c.5717G>T	Putative Benign			SIFT: Polyphen: