Paralogue Annotation for RYR2 residue 448

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 448
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 448

No paralogue variants have been mapped to residue 448 for RYR2.

RYR2	TVFLFNRFIRGLDALSKKAKA----STVDL>P<IESVSLSLQDLIGYFHPPDEHLEHEDKQNR	478
RYR1	TNGLYNQFIKSLDSFSGKPRGSGPPAGTAL>P<IEGVILSLQDLIIYFEPPSEDLQHEEKQSK	466
RYR3	TTALFSQFVSGN-----NRTA----APITL>P<IEEVLQTLQDLIAYFQPPEEEMRHEDKQNK	465
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P448A	c.1342C>G	Putative Benign		rs369933531	SIFT: tolerated Polyphen: benign