Paralogue Annotation for RYR2 residue 3227

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3227
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3227

No paralogue variants have been mapped to residue 3227 for RYR2.

RYR2	LPTNVEDVCPNIPSLEKLMEEIVELAESGI>R<YTQMPHVMEVILPMLCSYMSRWWEHGPENN	3257
RYR1	LPNSVEEMCPDIPVLERLMADIGGLAESGA>R<YTEMPHVIEITLPMLCSYLPRWWERGPEAP	3292
RYR3	MPDTVEDMCPDIPQLEGLMKEINDLAESGA>R<YTEMPHVIEVILPMLCNYLSYWWERGPENL	3153
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3227C	c.9679C>T	Putative Benign			SIFT: Polyphen:
p.R3227H	c.9680G>A	Putative Benign			SIFT: Polyphen: