Paralogue Annotation for RYR1 residue 397

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 397
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 397

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S413TCatecholaminergic polymorphic ventricular tachycarHigh9 19398665, 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.



RYR1RLGVLKKKAMLHQEGHMDDALSLTRCQQEE>S<QAARMIHSTNGLYNQFIKSLDSFSGKPRGS427
RYR2RMGSIQRKAIMHHEGHMDDGISLSRSQHEE>S<RTARVIRSTVFLFNRFIRGLDALSKKAKA-442
RYR3RLGPLKRKVILHQEGHMDDGLTLQRCQREE>S<QAARIIRNTTALFSQFVSGN-----NRTA-429
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 397 for RYR1.