Paralogue Annotation for RYR1 residue 989

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 989
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 989

No paralogue variants have been mapped to residue 989 for RYR1.



RYR1MMSNGYKPAPLDLSHVRLTPAQTTLVDRLA>E<NGHNVWARDRVGQGWSYSAVQDIPARRNPR1019
RYR2QLTSGYKPAPMDLSFIKLTPSQEAMVDKLA>E<NAHNVWARDRIRQGWTYGIQQDVKNRRNPR1031
RYR3MMSNGYKPAPLDLSDVKLLPPQEILVDKLA>E<NAHNVWAKDRIKQGWTYGIQQDLKNKRNPR1018
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E989Gc.2966A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
Other Disease Phenotype RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 131(12):1532-40. doi: 10.1001/jamaophthalmol.2013. 24091937