Paralogue Annotation for RYR2 residue 3219

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3219
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3219

No paralogue variants have been mapped to residue 3219 for RYR2.

RYR2	SRERAALSLPTNVEDVCPNIPSLEKLMEEI>V<ELAESGIRYTQMPHVMEVILPMLCSYMSRW	3249
RYR1	PRERAILGLPNSVEEMCPDIPVLERLMADI>G<GLAESGARYTEMPHVIEITLPMLCSYLPRW	3284
RYR3	PRERSILGMPDTVEDMCPDIPQLEGLMKEI>N<DLAESGARYTEMPHVIEVILPMLCNYLSYW	3145
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3219M	c.9655G>A	Cardiomyopathy		rs371147744	SIFT: tolerated Polyphen: benign
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