No paralogue variants have been mapped to residue 2260 for RYR2.
RYR2 | ASPAMRGSTPLDVAAASVMDNNELALALRE>P<DLEKVVRYLAGCGLQSCQMLVSKGYPDIGW | 2290 |
RYR1 | -L-GMQGSTPLDVAAASVIDNNELALALQE>Q<DLEKVVSYLAGCGLQSCPMLVAKGYPDIGW | 2323 |
RYR3 | ASPSMRGSTPLDVAASSVMDNNELALSLEE>P<DLEKVVTYLAGCGLQSCPMLLAKGYPDVGW | 2187 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2260L | c.6779C>T | Putative Benign | SIFT: Polyphen: |