Paralogue Annotation for RYR1 residue 3266

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3266
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3266

No paralogue variants have been mapped to residue 3266 for RYR1.

RYR1	VEEMCPDIPVLERLMADIGGLAESGARYTE>M<PHVIEITLPMLCSYLPRWWERGPEAPPSAL	3296
RYR2	VEDVCPNIPSLEKLMEEIVELAESGIRYTQ>M<PHVMEVILPMLCSYMSRWWEHGPENNPE--	3259
RYR3	VEDMCPDIPQLEGLMKEINDLAESGARYTE>M<PHVIEVILPMLCNYLSYWWERGPENLPP--	3155
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3266L	c.9796A>C	Putative Benign		rs201588259	SIFT: Polyphen: benign
p.M3266I	c.9798G>A	Putative Benign		rs188176550	SIFT: Polyphen: benign