Paralogue Annotation for RYR2 residue 2096

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2096
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2096

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G2132SExertional 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.



RYR2MVRWAQESVIEDPELVRAMFVLLHRQYDGI>G<GLVRALPKTYTINGVSVEDTINLLASLGQI2126
RYR1VVRWAQEDFVQSPELVRAMFSLLHRQYDGL>G<ELLRALPRAYTISPSSVEDTMSLLECLGQI2162
RYR3MICWAQEDQIQDSELVRMMFNLLRRQYDSI>G<ELLQALRKTYTISHTSVSDTINLLAALGQI2024
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2096 for RYR2.