Paralogue Annotation for RYR1 residue 3238

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3238
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3238

No paralogue variants have been mapped to residue 3238 for RYR1.



RYR1PQLNEYNACSVYTTKSPRERAILGLPNSVE>E<MCPDIPVLERLMADIGGLAESGARYTEMPH3268
RYR2THLDKHNIYSIYNTKSSRERAALSLPTNVE>D<VCPNIPSLEKLMEEIVELAESGIRYTQMPH3233
RYR3PTLNRYNPLSVFNTKTPRERSILGMPDTVE>D<MCPDIPQLEGLMKEINDLAESGARYTEMPH3129
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3238Gc.9713A>G Other MyopathySIFT:
Polyphen: benign
ReportsOther Myopathy A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381