No paralogue variants have been mapped to residue 4070 for RYR1.
RYR1 | ARQMVDMLVESSSNVEMILKFFDMFLKLKD>I<VGSEAFQDYVTDPRGLISKKDFQKAMDSQK | 4100 |
RYR2 | GKQMVDMLVESSNNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGVISKRDFHKAMESHK | 4056 |
RYR3 | GKQMVDTLVESSTNVEMILKFFDMFLKLKD>L<TSSDTFKEYDPDGKGIISKKEFQKAMEGQK | 3952 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4070M | c.12210T>G | Putative Benign | SIFT: Polyphen: |