No paralogue variants have been mapped to residue 1252 for RYR2.
RYR2 | STLKYFTICGLQEGYEPFAVNTNRDITMWL>S<KRLPQFLQVPSNHEHIEVTRIDGTIDSSPC | 1282 |
RYR1 | SSLRFFAICGLQEGFEPFAINMQRPVTTWF>S<KGLPQFEPVPLEHPHYEVSRVDGTVDTPPC | 1268 |
RYR3 | STFKFYTMCGLQEGFEPFAVNMNRDVAMWF>S<KRLPTFVNVPKDHPHIEVMRIDGTMDSPPC | 1268 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1252R | c.3756C>G | Putative Benign | SIFT: Polyphen: |