Paralogue Annotation for RYR1 residue 1219

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1219
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1219

No paralogue variants have been mapped to residue 1219 for RYR1.



RYR1PVCSLGPGQVGHLNLGQDVSSLRFFAICGL>Q<EGFEPFAINMQRPVTTWFSKGLPQFEPVPL1249
RYR2PVCSLGVAQVGRMNFGKDVSTLKYFTICGL>Q<EGYEPFAVNTNRDITMWLSKRLPQFLQVPS1263
RYR3PICCLGLSQIGRMNLGTDASTFKFYTMCGL>Q<EGFEPFAVNMNRDVAMWFSKRLPTFVNVPK1249
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1219Pc.3656A>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8. 21965348