Paralogue Annotation for RYR1 residue 52

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 52
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 52

No paralogue variants have been mapped to residue 52 for RYR1.



RYR1QCSATVLKEQLKLCLAAEGFGNRLCFLEPT>S<NAQNVPPDLAICCFVLEQSLSVRALQEMLA82
RYR2QCTATIHKEQQKLCLAAEGFGNRLCFLEST>S<NSKNVPPDLSICTFVLEQSLSVRALQEMLA83
RYR3QCIATIHKEQRKFCLAAEGLGNRLCFLEPT>S<EAKYIPPDLCVCNFVLEQSLSVRALQEMLA84
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S52Ic.155G>T Putative BenignSIFT:
Polyphen:
p.S52Nc.155G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther 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