No paralogue variants have been mapped to residue 449 for RYR2.
RYR2 | VFLFNRFIRGLDALSKKAKA----STVDLP>I<ESVSLSLQDLIGYFHPPDEHLEHEDKQNRL | 479 |
RYR1 | NGLYNQFIKSLDSFSGKPRGSGPPAGTALP>I<EGVILSLQDLIIYFEPPSEDLQHEEKQSKL | 467 |
RYR3 | TALFSQFVSGN-----NRTA----APITLP>I<EEVLQTLQDLIAYFQPPEEEMRHEDKQNKL | 466 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I449R | c.1346T>G | Putative Benign | rs373331669 | SIFT: tolerated Polyphen: benign | |
p.I449V | c.1345A>G | Putative Benign | SIFT: Polyphen: |