Paralogue Annotation for RYR1 residue 3284

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3284
Reference Amino Acid: W - Tryptophan
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3284

No paralogue variants have been mapped to residue 3284 for RYR1.



RYR1GGLAESGARYTEMPHVIEITLPMLCSYLPR>W<WERGPEAPPSALPAGAPPPCTAVTSDHLNS3314
RYR2VELAESGIRYTQMPHVMEVILPMLCSYMSR>W<WEHGPENNPE----RAEMCCTALNSEHMNT3275
RYR3NDLAESGARYTEMPHVIEVILPMLCNYLSY>W<WERGPENLPP----STGPCCTKVTSEHLSL3171
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W3284Rc.9850T>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645