Paralogue Annotation for RYR2 residue 2213

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2213
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2213

No paralogue variants have been mapped to residue 2213 for RYR2.

RYR2	ESKEITFPKMVANCCRFLCYFCRISRQNQK>A<MFDHLSYLLENSSVGLASPAMRGSTPLDVA	2243
RYR1	ESKEIRFPKMVTSCCRFLCYFCRISRQNQR>S<MFDHLSYLLENSGIG--L-GMQGSTPLDVA	2276
RYR3	EKSQIAFPKMVASCCRFLCYFCRISRQNQK>A<MFEHLSYLLENSSVGLASPSMRGSTPLDVA	2140
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2213S	c.6637G>T	Cardiomyopathy	ARVD/C		SIFT: Polyphen:
Reports		Cardiomyopathy	ARVD/C	Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart Rhythm. 2014 11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020 25041964