No paralogue variants have been mapped to residue 438 for RYR1.
RYR1 | GLYNQFIKSLDSFSGKPRGSGPPAGTALPI>E<GVILSLQDLIIYFEPPSEDLQHEEKQSKLR | 468 |
RYR2 | FLFNRFIRGLDALSKKAKA----STVDLPI>E<SVSLSLQDLIGYFHPPDEHLEHEDKQNRLR | 480 |
RYR3 | ALFSQFVSGN-----NRTA----APITLPI>E<EVLQTLQDLIAYFQPPEEEMRHEDKQNKLR | 467 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E438K | c.1312G>A | Putative Benign | SIFT: Polyphen: |