No paralogue variants have been mapped to residue 2099 for RYR2.
RYR2 | WAQESVIEDPELVRAMFVLLHRQYDGIGGL>V<RALPKTYTINGVSVEDTINLLASLGQIRSL | 2129 |
RYR1 | WAQEDFVQSPELVRAMFSLLHRQYDGLGEL>L<RALPRAYTISPSSVEDTMSLLECLGQIRSL | 2165 |
RYR3 | WAQEDQIQDSELVRMMFNLLRRQYDSIGEL>L<QALRKTYTISHTSVSDTINLLAALGQIRSL | 2027 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2099I | c.6295G>A | Putative Benign | SIFT: Polyphen: |