Paralogue Annotation for RYR2 residue 4772

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4772
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4772

No paralogue variants have been mapped to residue 4772 for RYR2.

RYR2	HLLDIAMGFKTLRTILSSVTHNGKQLVLTV>G<LLAVVVYLYTVVAFNFFRKFYNKSEDGDTP	4802
RYR1	HLLDIAMGVKTLRTILSSVTHNGKQLVMTV>G<LLAVVVYLYTVVAFNFFRKFYNKSEDEDEP	4873
RYR3	HLLDIAMGFKTLRTILSSVTHNGKQLVLTV>G<LLAVVVYLYTVVAFNFFRKFYNKSEDDDEP	4705
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4772S	c.14314G>A	Putative Benign		rs193922622	SIFT: tolerated Polyphen: probably damaging