No paralogue variants have been mapped to residue 2137 for RYR1.
RYR1 | QEDFVQSPELVRAMFSLLHRQYDGLGELLR>A<LPRAYTISPSSVEDTMSLLECLGQIRSLLI | 2167 |
RYR2 | QESVIEDPELVRAMFVLLHRQYDGIGGLVR>A<LPKTYTINGVSVEDTINLLASLGQIRSLLS | 2131 |
RYR3 | QEDQIQDSELVRMMFNLLRRQYDSIGELLQ>A<LRKTYTISHTSVSDTINLLAALGQIRSLLS | 2029 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2137V | c.6410C>T | Putative Benign | SIFT: Polyphen: |