No paralogue variants have been mapped to residue 2079 for RYR2.
RYR2 | ESDSKKSSTLQQLISETMVRWAQESVIEDP>E<LVRAMFVLLHRQYDGIGGLVRALPKTYTIN | 2109 |
RYR1 | SAEESKPRSLQELVSHMVVRWAQEDFVQSP>E<LVRAMFSLLHRQYDGLGELLRALPRAYTIS | 2145 |
RYR3 | EEEERCPTTLKELISQTMICWAQEDQIQDS>E<LVRMMFNLLRRQYDSIGELLQALRKTYTIS | 2007 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2079A | c.6236A>C | Putative Benign | SIFT: deleterious Polyphen: benign | ||
p.E2079K | c.6235G>A | Putative Benign | SIFT: Polyphen: |