Paralogue Annotation for RYR1 residue 2339

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2339
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2339

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2V2306IVentricular tachycardia, polymorphicHigh9 14571276, 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.



RYR1SCPMLVAKGYPDIGWNPCGGERYLDFLRFA>V<FVNGESVEENANVVVRLLIRKPECFGPALR2369
RYR2SCQMLVSKGYPDIGWNPVEGERYLDFLRFA>V<FCNGESVEENANVVVRLLIRRPECFGPALR2336
RYR3SCPMLLAKGYPDVGWNPIEGERYLSFLRFA>V<FVNSESVEENASVVVKLLIRRPECFGPALR2233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2339 for RYR1.