Paralogue Annotation for RYR1 residue 4722

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4722
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4722

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2K4650ECatecholaminergic polymorphic ventricular tachycarHigh9 17908752, 24025405, 25525159

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.



RYR1QPEDDDVKGQWDRLVLNTPSFPSNYWDKFV>K<RKVLDKHGDIYGRERIAELLGMDLATLEIT4752
RYR2QPSEDDIKGQWDRLVINTQSFPNNYWDKFV>K<RKVMDKYGEFYGRDRISELLGMDKAALDFS4680
RYR3QPSEDDIKGQWDRLVINTPSFPNNYWDKFV>K<RKVINKYGDLYGAERIAELLGLDKNALDFS4585
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4722 for RYR1.