No paralogue variants have been mapped to residue 2133 for RYR1.
RYR1 | VRWAQEDFVQSPELVRAMFSLLHRQYDGLG>E<LLRALPRAYTISPSSVEDTMSLLECLGQIR | 2163 |
RYR2 | VRWAQESVIEDPELVRAMFVLLHRQYDGIG>G<LVRALPKTYTINGVSVEDTINLLASLGQIR | 2127 |
RYR3 | ICWAQEDQIQDSELVRMMFNLLRRQYDSIG>E<LLQALRKTYTISHTSVSDTINLLAALGQIR | 2025 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2133K | c.6397G>A | Putative Benign | SIFT: Polyphen: |