Paralogue Annotation for CACNA1C residue 813

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 813
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 813

No paralogue variants have been mapped to residue 813 for CACNA1C.

CACNA1C	IELKSIT---------------------AD>G<------------------------------	813
CACNA1A	R--PGEEGP-EDKAE--RRARHREGSRPAR>G<G-EGEGEGPDGGE-----------------	1001
CACNA1B	H--QDPSKE-CAGAKGERRARHRG-G--PR>-<--AGPREAESGEE-----------------	975
CACNA1D	---NQIA---------------------NS>D<------------------------------	820
CACNA1E	QERSLDEAM-PTEGE--KDHELRGNHG-A->-<--KEPTIQEERAQ-----------------	979
CACNA1F	------------------------------>-<------------------------------
CACNA1G	---EGQESQ-DEEES--SEEERASPAG--->-<SD----HR------------HRGSLEREAK	1169
CACNA1H	---EGKGST-DDEAE--DGRAAPGPRA--->-<TP----LR------------R---------	1195
CACNA1I	---ERGGGARVCE----VAADEGPPRAAPL>-<HTPHAHHIHHGPHLAHRHRHHRRTLSLDNR	1062
CACNA1S	---EQKP---------------------KG>E<------------------------------	712
SCN10A	---LEDDGGEDAQ----SFQQEVIPKGQQE>-<QLQQ----VE--------------------	1037
SCN11A	---SGED----------------------->-<------------------------------	932
SCN1A	---LNTE----------------------->-<------------------------------	1130
SCN2A	---LNTE----------------------->-<------------------------------	1120
SCN3A	---LNTE----------------------->-<------------------------------	1118
SCN4A	---PTEE----------------------->-<------------------------------	939
SCN5A	---QEED----------------------->-<------------------------------	1062
SCN7A	---LDNK----------------------->-<------------------------------	851
SCN8A	---LNTE----------------------->-<------------------------------	1111
SCN9A	---MNAE----------------------->-<------------------------------	1093
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G813R	c.2437G>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging