No paralogue variants have been mapped to residue 2100 for RYR2.
RYR2 | AQESVIEDPELVRAMFVLLHRQYDGIGGLV>R<ALPKTYTINGVSVEDTINLLASLGQIRSLL | 2130 |
RYR1 | AQEDFVQSPELVRAMFSLLHRQYDGLGELL>R<ALPRAYTISPSSVEDTMSLLECLGQIRSLL | 2166 |
RYR3 | AQEDQIQDSELVRMMFNLLRRQYDSIGELL>Q<ALRKTYTISHTSVSDTINLLAALGQIRSLL | 2028 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2100W | c.6298C>T | Putative Benign | SIFT: Polyphen: |