Paralogue Annotation for RYR2 residue 792

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 792
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 792

No paralogue variants have been mapped to residue 792 for RYR2.

RYR2	SAPSISFRINGQPVQGMFENFNIDGLFFPV>V<SFSAGIKVRFLLGGRHGEFKFLPPPGYAPC	822
RYR1	SVPSISFRINGCPVQGVFESFNLDGLFFPV>V<SFSAGVKVRFLLGGRHGEFKFLPPPGYAPC	810
RYR3	GVPSISFRINGQPVQGMFENFNTDGLFFPV>M<SFSAGVKVRFLMGGRHGEFKFLPPSGYAPC	809
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V792I	c.2374G>A	Putative Benign			SIFT: Polyphen: