Paralogue Annotation for RYR2 residue 2932

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2932
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2932

No paralogue variants have been mapped to residue 2932 for RYR2.

RYR2	AVSRGFKDLELDTPSIEKRFAYSFLQQLIR>Y<VDEAHQYILEFDGG-SRGKGEHFPYEQEIK	2961
RYR1	AVTRGLKDMELDSSSIEKRFAFGFLQQLLR>W<MDISQEFIAHLEAVVSSGRVEKSPHEQEIK	2996
RYR3	IVSRGMKDMELDASSMEKRFAYKFLKKILK>Y<VDSAQEFIAHLEAIVSSGKTEKSPRDQEIK	2857
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2932H	c.8794T>C	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