Paralogue Annotation for RYR2 residue 597

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 597
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 597

No paralogue variants have been mapped to residue 597 for RYR2.

RYR2	ASSGILEVLHCVLVESPEALNIIKEGHIKS>I<ISLLDKHGRNHKVLDVLCSLCVCHGVAVRS	627
RYR1	ASSGILEVLYCVLIESPEVLNIIQENHIKS>I<ISLLDKHGRNHKVLDVLCSLCVCNGVAVRS	615
RYR3	SSSGILEVLHCILTESPEALNLIAEGHIKS>I<ISLLDKHGRNHKVLDILCSLCLCNGVAVRA	614
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I597V	c.1789A>G	Putative Benign			SIFT: Polyphen:
p.Ile597Met	c.1791T>G	Unknown			SIFT: Polyphen: