No paralogue variants have been mapped to residue 2114 for RYR2.
RYR2 | MFVLLHRQYDGIGGLVRALPKTYTINGVSV>E<DTINLLASLGQIRSLLSVRMGKEEEKLMIR | 2144 |
RYR1 | MFSLLHRQYDGLGELLRALPRAYTISPSSV>E<DTMSLLECLGQIRSLLIVQMGPQEENLMIQ | 2180 |
RYR3 | MFNLLRRQYDSIGELLQALRKTYTISHTSV>S<DTINLLAALGQIRSLLSVRMGKEEELLMIN | 2042 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2114Q | c.6340G>C | Putative Benign | SIFT: Polyphen: |