Paralogue Annotation for CACNA1C residue 1820

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1820
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1820

No paralogue variants have been mapped to residue 1820 for CACNA1C.

CACNA1C	EGHGPPLSPAIR--VQEVAWKLSSNRCHSR>E<SQAAMAGQEET------------SQDETYE	1838
CACNA1A	LSTISDTSPMKRSASVL-------G---PK>A<RRLDDYSLERV---------------PPEE	2148
CACNA1B	---VTDASPMKRSISTL-------AQ-RPR>G<THLCSTTPDRP---------------PPSQ	2047
CACNA1D	SSHKHDREPQRRSSVKRTRYYETYIRSDSG>D<EQLPTICREDPEIHGYFRDPHCLGEQEYFS	1867
CACNA1E	--VVTDPSSMRRSFSTI-------RDKRSN>-<----SSWLEEF---------------SMER	2041
CACNA1F	-------------------ALIFTIPEEGN>S<QPKGTKGQNKQ------------DEDEEVP	1753
CACNA1G	RPLRRQAAIRTDSLDVQ-------GL-GSR>E<DLLAEVSGPSP------------PLARAYS	2168
CACNA1H	------------------------------>-<------------------------------
CACNA1I	-------LSDSP------------------>-<------------------------------	2042
CACNA1S	------------------------------>-<------------------------------
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.E1820D	c.5460G>C	Putative Benign			SIFT: Polyphen: