No paralogue variants have been mapped to residue 4104 for RYR1.
RYR1 | EAFQDYVTDPRGLISKKDFQKAMDSQKQFS>G<PEIQFLLSCSEADENEMINCEEFANRFQEP | 4134 |
RYR2 | DTFKEYDPDGKGVISKRDFHKAMESHKHYT>Q<SETEFLLSCAETDENETLDYEEFVKRFHEP | 4090 |
RYR3 | DTFKEYDPDGKGIISKKEFQKAMEGQKQYT>Q<SEIDFLLSCAEADENDMFNYVDFVDRFHEP | 3986 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4104S | c.12310G>A | Putative Benign | SIFT: Polyphen: |