Paralogue Annotation for RYR1 residue 2329

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2329
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2329

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2E2296QCatecholaminergic polymorphic ventricular tachycarHigh9 19926015, 24025405

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.



RYR1VSYLAGCGLQSCPMLVAKGYPDIGWNPCGG>E<RYLDFLRFAVFVNGESVEENANVVVRLLIR2359
RYR2VRYLAGCGLQSCQMLVSKGYPDIGWNPVEG>E<RYLDFLRFAVFCNGESVEENANVVVRLLIR2326
RYR3VTYLAGCGLQSCPMLLAKGYPDVGWNPIEG>E<RYLSFLRFAVFVNSESVEENASVVVKLLIR2223
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2329 for RYR1.