Paralogue Annotation for RYR2 residue 4608

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4608
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4608

No paralogue variants have been mapped to residue 4608 for RYR2.

RYR2	LHTVISFFCIIGYYCLKVPLVIFKREKEVA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTQ	4638
RYR1	LHTLVAFLCIIGYNCLKVPLVIFKREKELA>R<KLEFDGLYITEQPEDDDVKGQWDRLVLNTP	4710
RYR3	IHTIISLVCVVGYYCLKVPLVVFKREKEIA>R<KLEFDGLYITEQPSEDDIKGQWDRLVINTP	4543
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4608W	c.13822C>T	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775
p.R4608Q	c.13823G>A	Inherited Arrhythmia	CPVT		SIFT: Polyphen:
Reports		Inherited Arrhythmia	CPVT	Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience. Circ Arrhythm Electrophysiol. 2014 7(5):800-6. doi: 10.1161/CIRCEP.114.001818. 25194972