Paralogue Annotation for RYR2 residue 4587

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4587
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4587

No paralogue variants have been mapped to residue 4587 for RYR2.

RYR2	VHYVLEESSGYMEPTLRILAILHTVISFFC>I<IGYYCLKVPLVIFKREKEVARKLEFDGLYI	4617
RYR1	VYYFLEESTGYMEPALRCLSLLHTLVAFLC>I<IGYNCLKVPLVIFKREKELARKLEFDGLYI	4689
RYR3	VFFVLQESTGYMAPTLRALAIIHTIISLVC>V<VGYYCLKVPLVVFKREKEIARKLEFDGLYI	4522
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4587V	c.13759A>G	Inherited Arrhythmia	CPVT		SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	CPVT	Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086
p.Ile4587Leu	c.13759A>C	Unknown			SIFT: Polyphen: