Paralogue Annotation for RYR1 residue 398

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 398
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 398

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R414CVentricular tachycardia, polymorphicMedium9 16436635, 24025405, 15887426
RYR2R414LVentricular tachycardia, polymorphicMedium9 15466642, 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.



RYR1LGVLKKKAMLHQEGHMDDALSLTRCQQEES>Q<AARMIHSTNGLYNQFIKSLDSFSGKPRGSG428
RYR2MGSIQRKAIMHHEGHMDDGISLSRSQHEES>R<TARVIRSTVFLFNRFIRGLDALSKKAKA--442
RYR3LGPLKRKVILHQEGHMDDGLTLQRCQREES>Q<AARIIRNTTALFSQFVSGN-----NRTA--429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 398 for RYR1.