Paralogue Annotation for RYR2 residue 2093

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2093
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2093

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1D2129EMalignant hyperthermiaHigh8 11241852
RYR1D2129NExertional myalgia and/or rhabdomyolysisHigh8 23628358, 25960145

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.



RYR2SETMVRWAQESVIEDPELVRAMFVLLHRQY>D<GIGGLVRALPKTYTINGVSVEDTINLLASL2123
RYR1SHMVVRWAQEDFVQSPELVRAMFSLLHRQY>D<GLGELLRALPRAYTISPSSVEDTMSLLECL2159
RYR3SQTMICWAQEDQIQDSELVRMMFNLLRRQY>D<SIGELLQALRKTYTISHTSVSDTINLLAAL2021
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2093Ec.6279C>A Putative BenignSIFT:
Polyphen: