No paralogue variants have been mapped to residue 4039 for RYR2.
RYR2 | NVEMILKFFDMFLKLKDLTSSDTFKEYDPD>G<KGVISKRDFHKAMESHKHYTQSETEFLLSC | 4069 |
RYR1 | NVEMILKFFDMFLKLKDIVGSEAFQDYVTD>P<RGLISKKDFQKAMDSQKQFSGPEIQFLLSC | 4113 |
RYR3 | NVEMILKFFDMFLKLKDLTSSDTFKEYDPD>G<KGIISKKEFQKAMEGQKQYTQSEIDFLLSC | 3965 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4039V | c.12116G>T | Putative Benign | SIFT: Polyphen: |