Paralogue Annotation for CACNA1C residue 2057

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 2057
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 2057

No paralogue variants have been mapped to residue 2057 for CACNA1C.

CACNA1C	--------------------------PKFI>E<VTT-QELADACDMTIEEMESAADNILSGGA	2086
CACNA1A	------------------------------>-<------------------------------
CACNA1B	--------------------------SDPY>L<GQR-LDSEASVHALPEDTLTFEEAVATNSG	2290
CACNA1D	--------------------------PKFV>S<ATK-HEIADACDLTIDEMESAASTLLNGNV	2131
CACNA1E	--------------------------SEPY>L<ALH-EDSHAS-DCGEEETLTFEAAVATSLG	2261
CACNA1F	--------------------------PRFV>A<LAK-QEIADACRLTLDEMDNAASDLLAQGT	1948
CACNA1G	--------------------------PPSP>G<ICLRRRAPSSDSKDPLASGPPDSMAASPSP	2358
CACNA1H	HRDSLEPTEGSGAGGDPAAKGERWGQASCR>A<EHLTVPSFAFEPLDLGVPSGDPFLDGSHSV	2288
CACNA1I	--------------------------PPAP>G<LTPARKFSSTSSLAAPGRPHAAALAHGLAR	2176
CACNA1S	--------------------------ANFI>M<ATG-QALADACQMEPEEVEIMATELLKGRE	1837
SCN10A	------------------------------>-<------------------------------
SCN11A	------------------------------>-<------------------------------
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN5A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2057K	c.6169G>A	Putative Benign			SIFT: Polyphen: