Paralogue Annotation for RYR2 residue 2183

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2183
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2183

No paralogue variants have been mapped to residue 2183 for RYR2.

RYR2	KVFYQHPNLMRALGMHETVMEVMVNVLGGG>E<SKEITFPKMVANCCRFLCYFCRISRQNQKA	2213
RYR1	KVFYQHPNLMRALGMHETVMEVMVNVLGGG>E<SKEIRFPKMVTSCCRFLCYFCRISRQNQRS	2249
RYR3	KVFYQHPNLMRVLGMHETVMEVMVNVLGT->E<KSQIAFPKMVASCCRFLCYFCRISRQNQKA	2110
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2183V	c.6548A>T	Putative Benign			SIFT: deleterious Polyphen: possibly damaging
Reports		Putative Benign		The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015