Paralogue Annotation for RYR2 residue 3258

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3258
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3258

No paralogue variants have been mapped to residue 3258 for RYR2.

RYR2	YTQMPHVMEVILPMLCSYMSRWWEHGPENN>P<E----RAEMCCTALNSEHMNTLLGNILKII	3284
RYR1	YTEMPHVIEITLPMLCSYLPRWWERGPEAP>P<SALPAGAPPPCTAVTSDHLNSLLGNILRII	3323
RYR3	YTEMPHVIEVILPMLCNYLSYWWERGPENL>P<P----STGPCCTKVTSEHLSLILGNILKII	3180
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3258S	c.9772C>T	Putative Benign		rs368028300	SIFT: tolerated Polyphen: benign