No paralogue variants have been mapped to residue 2272 for RYR1.
RYR1 | QNQRSMFDHLSYLLENSGIG--L-GMQGST>P<LDVAAASVIDNNELALALQEQDLEKVVSYL | 2302 |
RYR2 | QNQKAMFDHLSYLLENSSVGLASPAMRGST>P<LDVAAASVMDNNELALALREPDLEKVVRYL | 2269 |
RYR3 | QNQKAMFEHLSYLLENSSVGLASPSMRGST>P<LDVAASSVMDNNELALSLEEPDLEKVVTYL | 2166 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2272S | c.6814C>T | Putative Benign | SIFT: Polyphen: |