Paralogue Annotation for RYR2 residue 3252

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3252
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3252

No paralogue variants have been mapped to residue 3252 for RYR2.

RYR2	AESGIRYTQMPHVMEVILPMLCSYMSRWWE>H<GPENNPE----RAEMCCTALNSEHMNTLLG	3278
RYR1	AESGARYTEMPHVIEITLPMLCSYLPRWWE>R<GPEAPPSALPAGAPPPCTAVTSDHLNSLLG	3317
RYR3	AESGARYTEMPHVIEVILPMLCNYLSYWWE>R<GPENLPP----STGPCCTKVTSEHLSLILG	3174
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3252R	c.9755A>G	Putative Benign			SIFT: Polyphen: