No paralogue variants have been mapped to residue 2136 for RYR1.
RYR1 | AQEDFVQSPELVRAMFSLLHRQYDGLGELL>R<ALPRAYTISPSSVEDTMSLLECLGQIRSLL | 2166 |
RYR2 | AQESVIEDPELVRAMFVLLHRQYDGIGGLV>R<ALPKTYTINGVSVEDTINLLASLGQIRSLL | 2130 |
RYR3 | AQEDQIQDSELVRMMFNLLRRQYDSIGELL>Q<ALRKTYTISHTSVSDTINLLAALGQIRSLL | 2028 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2136H | c.6407G>A | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.R2136C | c.6406C>T | Putative Benign | SIFT: Polyphen: benign | ||
p.Arg2136Cys | c.6406C>T | Unknown | SIFT: Polyphen: |