No paralogue variants have been mapped to residue 2115 for RYR1.
RYR1 | SAEESKPRSLQELVSHMVVRWAQEDFVQSP>E<LVRAMFSLLHRQYDGLGELLRALPRAYTIS | 2145 |
RYR2 | ESDSKKSSTLQQLISETMVRWAQESVIEDP>E<LVRAMFVLLHRQYDGIGGLVRALPKTYTIN | 2109 |
RYR3 | EEEERCPTTLKELISQTMICWAQEDQIQDS>E<LVRMMFNLLRRQYDSIGELLQALRKTYTIS | 2007 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2115K | c.6343G>A | Putative Benign | rs147197176 | SIFT: Polyphen: benign |