Paralogue Annotation for RYR2 residue 3231

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3231
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3231

No paralogue variants have been mapped to residue 3231 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3231V	c.9691A>G	Putative Benign		rs374899980	SIFT: tolerated Polyphen: benign
p.M3231I	c.9693G>A	Putative Benign			SIFT: Polyphen: