Paralogue Annotation for RYR2 residue 453

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 453
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 453

No paralogue variants have been mapped to residue 453 for RYR2.

RYR2	NRFIRGLDALSKKAKA----STVDLPIESV>S<LSLQDLIGYFHPPDEHLEHEDKQNRLRALK	483
RYR1	NQFIKSLDSFSGKPRGSGPPAGTALPIEGV>I<LSLQDLIIYFEPPSEDLQHEEKQSKLRSLR	471
RYR3	SQFVSGN-----NRTA----APITLPIEEV>L<QTLQDLIAYFQPPEEEMRHEDKQNKLRSLK	470
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S453T	c.1358G>C	Putative Benign			SIFT: Polyphen: