No paralogue variants have been mapped to residue 4048 for RYR2.
RYR2 | DMFLKLKDLTSSDTFKEYDPDGKGVISKRD>F<HKAMESHKHYTQSETEFLLSCAETDENETL | 4078 |
RYR1 | DMFLKLKDIVGSEAFQDYVTDPRGLISKKD>F<QKAMDSQKQFSGPEIQFLLSCSEADENEMI | 4122 |
RYR3 | DMFLKLKDLTSSDTFKEYDPDGKGIISKKE>F<QKAMEGQKQYTQSEIDFLLSCAEADENDMF | 3974 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F4048V | c.12142T>G | Putative Benign | SIFT: Polyphen: |