No paralogue variants have been mapped to residue 52 for RYR1.
RYR1 | QCSATVLKEQLKLCLAAEGFGNRLCFLEPT>S<NAQNVPPDLAICCFVLEQSLSVRALQEMLA | 82 |
RYR2 | QCTATIHKEQQKLCLAAEGFGNRLCFLEST>S<NSKNVPPDLSICTFVLEQSLSVRALQEMLA | 83 |
RYR3 | QCIATIHKEQRKFCLAAEGLGNRLCFLEPT>S<EAKYIPPDLCVCNFVLEQSLSVRALQEMLA | 84 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S52I | c.155G>T | Putative Benign | SIFT: Polyphen: | ||
p.S52N | c.155G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Extreme obesity is associated with variation in genes related to the circadian rhythm of food intake and hypothalamic signaling. Physiol Genomics. 2015 47(6):225-31. doi: 10.1152/physiolgenomics.00006.2 25805767 |