Paralogue Annotation for CACNA1C residue 1733

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1733
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1733

No paralogue variants have been mapped to residue 1733 for CACNA1C.

CACNA1C	--RSAFPQTFT---T-------QRPLHINK>A<GSS-QGDTESPSHEKLVDSTFTPSSY----	1758
CACNA1A	GRAASMPRLPA------------------->-<------------------------------	2099
CACNA1B	GRAASMPRLAA------------------->-<------------------------------	2008
CACNA1D	--RDSLQQTNT---T-------HRPLHVQR>P<SIPPASDTEKPLFPPAGNSVCHNHHNHNSI	1766
CACNA1E	GRASSMPRLTV------------------->-<------------------------------	2006
CACNA1F	--SGISVSLPVGDRL-------PDSLSFG->-<-P----------SDDDRG------------	1701
CACNA1G	GSVLSVHSQP-----------ADT------>-<----SYILQLPKDAPHLLQPHS-APT----	2110
CACNA1H	TFGQRCVSSRP---AAP----GGE------>-<----EAEASDPADEEVSHITSS-ACP----	2110
CACNA1I	GTLPKIALQGS---WASLRSPRVN------>-<----CTLLRQATGSDTSLDASP-SSS----	2024
CACNA1S	--TNSLPPVMA---N-------QRPLQFAE>I<E---MEEMESPVFLE---D-FPQDPR----	1652
SCN10A	------------------------------>-<--------------ETASATSF-P------	1918
SCN11A	------------------------------>-<--------------L---------------	1773
SCN1A	------------------------------>-<--------------DLTMSTAACP------	1983
SCN2A	------------------------------>-<--------------DMTPSTTS-P------	1972
SCN3A	------------------------------>-<--------------DGSSSTTS-P------	1967
SCN4A	------------------------------>-<--------------EKGEAGDA-G------	1802
SCN5A	------------------------------>-<--------------SSISSTSF-P------	1974
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<--------------ESTPSTAS-L------	1944
SCN9A	------------------------------>-<--------------DATSSTTS-P------	1944
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1733V	c.5198C>T	Other Cardiac Phenotype		rs201049603	SIFT: tolerated Polyphen: benign
Reports		Other Cardiac Phenotype		Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J. 2013 13(4):325-9. doi: 10.1038/tpj.2012.14. 22584458