Paralogue Annotation for RYR2 residue 2112

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2112
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2112

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1S2148FMuscular dystrophyHigh7 27159402

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.



RYR2RAMFVLLHRQYDGIGGLVRALPKTYTINGV>S<VEDTINLLASLGQIRSLLSVRMGKEEEKLM2142
RYR1RAMFSLLHRQYDGLGELLRALPRAYTISPS>S<VEDTMSLLECLGQIRSLLIVQMGPQEENLM2178
RYR3RMMFNLLRRQYDSIGELLQALRKTYTISHT>S<VSDTINLLAALGQIRSLLSVRMGKEEELLM2040
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 2112 for RYR2.