Paralogue Annotation for RYR1 residue 474

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 474
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 474

No paralogue variants have been mapped to residue 474 for RYR1.



RYR1LQDLIIYFEPPSEDLQHEEKQSKLRSLRNR>Q<SLFQEEGMLSMVLNCIDRLNVYTTAAHFAE504
RYR2LQDLIGYFHPPDEHLEHEDKQNRLRALKNR>Q<NLFQEEGMINLVLECIDRLHVYSSAAHFAD516
RYR3LQDLIAYFQPPEEEMRHEDKQNKLRSLKNR>Q<NLFKEEGMLALVLNCIDRLNVYNSVAHFAG503
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q474Hc.1422G>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918
Other Myopathy Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology. 2006 104(6):1146-54. 16732084