Paralogue Annotation for RYR2 residue 3201

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3201
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3201

No paralogue variants have been mapped to residue 3201 for RYR2.

RYR2	LETHLDKHNIYSIYNTKSSRERAALSLPTN>V<EDVCPNIPSLEKLMEEIVELAESGIRYTQM	3231
RYR1	LEPQLNEYNACSVYTTKSPRERAILGLPNS>V<EEMCPDIPVLERLMADIGGLAESGARYTEM	3266
RYR3	LEPTLNRYNPLSVFNTKTPRERSILGMPDT>V<EDMCPDIPQLEGLMKEINDLAESGARYTEM	3127
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3201M	c.9601G>A	Putative Benign			SIFT: Polyphen: