Paralogue Annotation for CACNA1C residue 2117

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2117
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2117

No paralogue variants have been mapped to residue 2117 for CACNA1C.

CACNA1C	CRDAG---QDRAGGEEDA----------GC>V<-----RARGRPSEEELQDSRVYVSSL	2138
CACNA1A	------------------------------>-<------------RSPSEGREHMAHRQ	2261
CACNA1B	QSHPL---RRVPNGYHCTLG-LS------->-<------SGGR--ARHSYHHPDQDHWC	2340
CACNA1D	RQDYE---LQDFGPGYSD----------E->E<-----PDPGR-DEEDLADEMICITTL	2181
CACNA1E	SW-------QMPNGHYRRRR-RG-----GP>G<-----PGMMCGAVNNLLSDTEEDDKC	2313
CACNA1F	--------------LYSD----------E->E<-----SILSRFDEEDLGDEMACVHAL	1977
CACNA1G	PADLD------------------------->-<-------------------------P	2377
CACNA1H	PLEPPESEPPMPVGDPPEKRRGLYLTVPQ->C<PLEKPGSPSA--TPA-PG-GGADDPV	2353
CACNA1I	GRAPLPMGLGPLAPP--------------->-<----PQPLPG--ELE-PGDAASKRKR	2223
CACNA1S	L----------------------------->G<-----SSLGSLDQHQGSQETLIPPRL	1873
SCN10A	------------------------------>-<----------------TSMELIAPGP	1956
SCN11A	------------------------------>-<-------------------------D	1791
SCN1A	------------------------------>-<----------------KG-------K	2009
SCN2A	------------------------------>-<----------------KGKDIRESKK	2005
SCN3A	------------------------------>-<----------------KGKEVRENQK	2000
SCN4A	------------------------------>-<----------------VRPGVKESLV	1836
SCN5A	------------------------------>-<------------DFPPSPDRDRESIV	2016
SCN7A	------------------------------>-<---------------------IQSQI	1682
SCN8A	------------------------------>-<----------------RQKEVRESKC	1980
SCN9A	------------------------------>-<----------------KGKDSKESKK	1977
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2117A	c.6350T>C	Putative Benign		rs372730703	SIFT: tolerated Polyphen: benign