No paralogue variants have been mapped to residue 48 for RYR2.
RYR2 | DEVVLQCTATIHKEQQKLCLAAEGFGNRLC>F<LESTSNSKNVPPDLSICTFVLEQSLSVRAL | 78 |
RYR1 | DEVVLQCSATVLKEQLKLCLAAEGFGNRLC>F<LEPTSNAQNVPPDLAICCFVLEQSLSVRAL | 77 |
RYR3 | DEVVLQCIATIHKEQRKFCLAAEGLGNRLC>F<LEPTSEAKYIPPDLCVCNFVLEQSLSVRAL | 79 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F48S | c.143T>C | Putative Benign | SIFT: Polyphen: |