Paralogue Annotation for RYR2 residue 457

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 457
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 457

No paralogue variants have been mapped to residue 457 for RYR2.

RYR2	RGLDALSKKAKA----STVDLPIESVSLSL>Q<DLIGYFHPPDEHLEHEDKQNRLRALKNRQN	487
RYR1	KSLDSFSGKPRGSGPPAGTALPIEGVILSL>Q<DLIIYFEPPSEDLQHEEKQSKLRSLRNRQS	475
RYR3	SGN-----NRTA----APITLPIEEVLQTL>Q<DLIAYFQPPEEEMRHEDKQNKLRSLKNRQN	474
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q457R	c.1370A>G	Putative Benign			SIFT: Polyphen: