No paralogue variants have been mapped to residue 4028 for RYR2.
RYR2 | QMVDMLVESSNNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGVISKRDFHKAMESHKHY | 4058 |
RYR1 | QMVDMLVESSSNVEMILKFFDMFLKLKDIV>G<SEAFQDYVTDPRGLISKKDFQKAMDSQKQF | 4102 |
RYR3 | QMVDTLVESSTNVEMILKFFDMFLKLKDLT>S<SDTFKEYDPDGKGIISKKEFQKAMEGQKQY | 3954 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4028L | c.12083C>T | Putative Benign | SIFT: Polyphen: |