Paralogue Annotation for RYR2 residue 3235

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3235
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3235

No paralogue variants have been mapped to residue 3235 for RYR2.

RYR2	CPNIPSLEKLMEEIVELAESGIRYTQMPHV>M<EVILPMLCSYMSRWWEHGPENNPE----RA	3261
RYR1	CPDIPVLERLMADIGGLAESGARYTEMPHV>I<EITLPMLCSYLPRWWERGPEAPPSALPAGA	3300
RYR3	CPDIPQLEGLMKEINDLAESGARYTEMPHV>I<EVILPMLCNYLSYWWERGPENLPP----ST	3157
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3235V	c.9703A>G	Putative Benign			SIFT: Polyphen:
p.M3235I	c.9705G>A	Unknown			SIFT: Polyphen: benign