Paralogue Annotation for RYR1 residue 390

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 390
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 390

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S406LCatecholaminergic polymorphic ventricular tachycarMedium8 22174035, 24025405, 25856671

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.



RYR1APDPKALRLGVLKKKAMLHQEGHMDDALSL>T<RCQQEESQAARMIHSTNGLYNQFIKSLDSF420
RYR2SVDVKSVRMGSIQRKAIMHHEGHMDDGISL>S<RSQHEESRTARVIRSTVFLFNRFIRGLDAL436
RYR3AQDAKTSRLGPLKRKVILHQEGHMDDGLTL>Q<RCQREESQAARIIRNTTALFSQFVSGN---425
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 390 for RYR1.