No paralogue variants have been mapped to residue 4055 for RYR2.
RYR2 | DLTSSDTFKEYDPDGKGVISKRDFHKAMES>H<KHYTQSETEFLLSCAETDENETLDYEEFVK | 4085 |
RYR1 | DIVGSEAFQDYVTDPRGLISKKDFQKAMDS>Q<KQFSGPEIQFLLSCSEADENEMINCEEFAN | 4129 |
RYR3 | DLTSSDTFKEYDPDGKGIISKKEFQKAMEG>Q<KQYTQSEIDFLLSCAEADENDMFNYVDFVD | 3981 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H4055D | c.12163C>G | Putative Benign | SIFT: Polyphen: |