Paralogue Annotation for RYR1 residue 3262

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3262
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3262

No paralogue variants have been mapped to residue 3262 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3262H	c.9785G>A	Putative Benign		rs200855514	SIFT: Polyphen: benign
p.R3262C	c.9784C>T	Putative Benign			SIFT: deleterious Polyphen: benign
p.R3262P	c.9785G>C	Putative Benign			SIFT: Polyphen: