No paralogue variants have been mapped to residue 2078 for RYR2.
RYR2 | VESDSKKSSTLQQLISETMVRWAQESVIED>P<ELVRAMFVLLHRQYDGIGGLVRALPKTYTI | 2108 |
RYR1 | RSAEESKPRSLQELVSHMVVRWAQEDFVQS>P<ELVRAMFSLLHRQYDGLGELLRALPRAYTI | 2144 |
RYR3 | TEEEERCPTTLKELISQTMICWAQEDQIQD>S<ELVRMMFNLLRRQYDSIGELLQALRKTYTI | 2006 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2078S | c.6232C>T | Putative Benign | SIFT: Polyphen: |