Paralogue Annotation for RYR2 residue 452

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 452
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 452

No paralogue variants have been mapped to residue 452 for RYR2.

RYR2	FNRFIRGLDALSKKAKA----STVDLPIES>V<SLSLQDLIGYFHPPDEHLEHEDKQNRLRAL	482
RYR1	YNQFIKSLDSFSGKPRGSGPPAGTALPIEG>V<ILSLQDLIIYFEPPSEDLQHEEKQSKLRSL	470
RYR3	FSQFVSGN-----NRTA----APITLPIEE>V<LQTLQDLIAYFQPPEEEMRHEDKQNKLRSL	469
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V452I	c.1354G>A	Putative Benign		rs375218751	SIFT: tolerated Polyphen: benign