Paralogue Annotation for RYR2 residue 485

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 485
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 485

No paralogue variants have been mapped to residue 485 for RYR2.

RYR2	SLQDLIGYFHPPDEHLEHEDKQNRLRALKN>R<QNLFQEEGMINLVLECIDRLHVYSSAAHFA	515
RYR1	SLQDLIIYFEPPSEDLQHEEKQSKLRSLRN>R<QSLFQEEGMLSMVLNCIDRLNVYTTAAHFA	503
RYR3	TLQDLIAYFQPPEEEMRHEDKQNKLRSLKN>R<QNLFKEEGMLALVLNCIDRLNVYNSVAHFA	502
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R485Q	c.1454G>A	Cardiomyopathy			SIFT: Polyphen:
Reports		Cardiomyopathy	HCM	Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175