Paralogue Annotation for RYR2 residue 3223

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3223
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3223

No paralogue variants have been mapped to residue 3223 for RYR2.

RYR2	AALSLPTNVEDVCPNIPSLEKLMEEIVELA>E<SGIRYTQMPHVMEVILPMLCSYMSRWWEHG	3253
RYR1	AILGLPNSVEEMCPDIPVLERLMADIGGLA>E<SGARYTEMPHVIEITLPMLCSYLPRWWERG	3288
RYR3	SILGMPDTVEDMCPDIPQLEGLMKEINDLA>E<SGARYTEMPHVIEVILPMLCNYLSYWWERG	3149
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3223D	c.9669G>C	Putative Benign		rs377626309	SIFT: tolerated Polyphen: benign
p.E3223K	c.9667G>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging