Paralogue Annotation for RYR1 residue 2993

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2993
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2993

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2Q2958RCatecholaminergic polymorphic ventricular tachycarHigh9 21315846, 19926015, 24025405, 24237251, 26904356, 27153395

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.



RYR1LLRWMDISQEFIAHLEAVVSSGRVEKSPHE>Q<EIKFFAKILLPLINQYFTNHCLYFLSTPAK3023
RYR2LIRYVDEAHQYILEFDGG-SRGKGEHFPYE>Q<EIKFFAKVVLPLIDQYFKNHRLYFLSAASR2988
RYR3ILKYVDSAQEFIAHLEAIVSSGKTEKSPRD>Q<EIKFFAKVLLPLVDQYFTSHCLYFLSSPLK2884
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 2993 for RYR1.