Paralogue Annotation for RYR1 residue 4725

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4725
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4725

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2V4653FVentricular tachycardia, polymorphicHigh9 11157710, 15197150, 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.



RYR1DDDVKGQWDRLVLNTPSFPSNYWDKFVKRK>V<LDKHGDIYGRERIAELLGMDLATLEITAHN4755
RYR2EDDIKGQWDRLVINTQSFPNNYWDKFVKRK>V<MDKYGEFYGRDRISELLGMDKAALDFSDAR4683
RYR3EDDIKGQWDRLVINTPSFPNNYWDKFVKRK>V<INKYGDLYGAERIAELLGLDKNALDFSPVE4588
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4725 for RYR1.