No paralogue variants have been mapped to residue 4765 for RYR1.
RYR1 | ERIAELLGMDLATLEITAHNER-KPNPPPG>L<LTWLMSIDVKYQIWKFGVIFTDNSFLYLGW | 4795 |
RYR2 | DRISELLGMDKAALDFSDAREKKKPKKDSS>L<SAVLNSIDVKYQMWKLGVVFTDNSFLYLAW | 4724 |
RYR3 | ERIAELLGLDKNALDFSPVEET-KA-EAAS>L<VSWLSSIDMKYHIWKLGVVFTDNSFLYLAW | 4627 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L4765V | c.14293C>G | Putative Benign | SIFT: Polyphen: |