No paralogue variants have been mapped to residue 4047 for RYR2.
RYR2 | FDMFLKLKDLTSSDTFKEYDPDGKGVISKR>D<FHKAMESHKHYTQSETEFLLSCAETDENET | 4077 |
RYR1 | FDMFLKLKDIVGSEAFQDYVTDPRGLISKK>D<FQKAMDSQKQFSGPEIQFLLSCSEADENEM | 4121 |
RYR3 | FDMFLKLKDLTSSDTFKEYDPDGKGIISKK>E<FQKAMEGQKQYTQSEIDFLLSCAEADENDM | 3973 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp4047His | c.12139G>C | Unknown | SIFT: Polyphen: |