No paralogue variants have been mapped to residue 54 for RYR1.
RYR1 | SATVLKEQLKLCLAAEGFGNRLCFLEPTSN>A<QNVPPDLAICCFVLEQSLSVRALQEMLANT | 84 |
RYR2 | TATIHKEQQKLCLAAEGFGNRLCFLESTSN>S<KNVPPDLSICTFVLEQSLSVRALQEMLANT | 85 |
RYR3 | IATIHKEQRKFCLAAEGLGNRLCFLEPTSE>A<KYIPPDLCVCNFVLEQSLSVRALQEMLANT | 86 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A54T | c.160G>A | Putative Benign | SIFT: Polyphen: |