Paralogue Annotation for RYR2 residue 449

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 449
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 449

No paralogue variants have been mapped to residue 449 for RYR2.



RYR2VFLFNRFIRGLDALSKKAKA----STVDLP>I<ESVSLSLQDLIGYFHPPDEHLEHEDKQNRL479
RYR1NGLYNQFIKSLDSFSGKPRGSGPPAGTALP>I<EGVILSLQDLIIYFEPPSEDLQHEEKQSKL467
RYR3TALFSQFVSGN-----NRTA----APITLP>I<EEVLQTLQDLIAYFQPPEEEMRHEDKQNKL466
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I449Rc.1346T>G Putative BenignSIFT: tolerated
Polyphen: benign
p.I449Vc.1345A>G Putative BenignSIFT:
Polyphen: