No paralogue variants have been mapped to residue 2068 for RYR2.
RYR2 | KKKQA--EKPVESDSKKSSTLQQLISETMV>R<WAQESVIEDPELVRAMFVLLHRQYDGIGGL | 2098 |
RYR1 | KKKEEKPEEERSAEESKPRSLQELVSHMVV>R<WAQEDFVQSPELVRAMFSLLHRQYDGLGEL | 2134 |
RYR3 | PKPEK--EQPTEEEERCPTTLKELISQTMI>C<WAQEDQIQDSELVRMMFNLLRRQYDSIGEL | 1996 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2068Q | c.6203G>A | Unknown | SIFT: Polyphen: possibly damaging | ||
p.Arg2068Leu | c.6203G>T | Unknown | SIFT: Polyphen: |