Paralogue Annotation for RYR2 residue 165

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 165
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 165

No paralogue variants have been mapped to residue 165 for RYR2.

RYR2	TSRSSTDKLAFDVGLQEDTTGEACWWTIHP>A<SKQRSEGEKVRVGDDLILVSVSSERYLHLS	195
RYR1	TSRSMTDKLAFDVGLQEDATGEACWWTMHP>A<SKQRSEGEKVRVGDDIILVSVSSERYLHLS	182
RYR3	TSRSQTDKLAFDVGLREHATGEACWWTIHP>A<SKQRSEGEKVRIGDDLILVSVSSERYLHLS	185
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A165D	c.494C>A	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	CPVT	The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands. Europace. 2012 14(9):1344-51. doi: 10.1093/europace/eus031. 22383456