Paralogue Annotation for RYR1 residue 2249

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2249
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2249

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2A2213SArrhythmogenic right ventricular dysplasia/cardiomMedium7 25041964

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 RYR1.



RYR1ESKEIRFPKMVTSCCRFLCYFCRISRQNQR>S<MFDHLSYLLENSGIG--L-GMQGSTPLDVA2276
RYR2ESKEITFPKMVANCCRFLCYFCRISRQNQK>A<MFDHLSYLLENSSVGLASPAMRGSTPLDVA2243
RYR3EKSQIAFPKMVASCCRFLCYFCRISRQNQK>A<MFEHLSYLLENSSVGLASPSMRGSTPLDVA2140
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2249 for RYR1.