No paralogue variants have been mapped to residue 2311 for RYR1.
RYR1 | IDNNELALALQEQDLEKVVSYLAGCGLQSC>P<MLVAKGYPDIGWNPCGGERYLDFLRFAVFV | 2341 |
RYR2 | MDNNELALALREPDLEKVVRYLAGCGLQSC>Q<MLVSKGYPDIGWNPVEGERYLDFLRFAVFC | 2308 |
RYR3 | MDNNELALSLEEPDLEKVVTYLAGCGLQSC>P<MLLAKGYPDVGWNPIEGERYLSFLRFAVFV | 2205 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2311L | c.6932C>T | Putative Benign | rs137871773 | SIFT: Polyphen: probably damaging |