No paralogue variants have been mapped to residue 4094 for RYR1.
RYR1 | FLKLKDIVGSEAFQDYVTDPRGLISKKDFQ>K<AMDSQKQFSGPEIQFLLSCSEADENEMINC | 4124 |
RYR2 | FLKLKDLTSSDTFKEYDPDGKGVISKRDFH>K<AMESHKHYTQSETEFLLSCAETDENETLDY | 4080 |
RYR3 | FLKLKDLTSSDTFKEYDPDGKGIISKKEFQ>K<AMEGQKQYTQSEIDFLLSCAEADENDMFNY | 3976 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4094Q | c.12280A>C | Putative Benign | SIFT: Polyphen: |