Paralogue Annotation for RYR1 residue 4560

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4560
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4560

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2F4499CVentricular tachycardia, polymorphicHigh9 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.



RYR1PPPKKEEAGGEFWGELEVQRVKFLNYLSRN>F<YTLRFLALFLAFAINFILLFYKVSDSPPGE4590
RYR2RYGEPEVPESAFWKKIIAYQQKLLNYFARN>F<YNMRMLALFVAFAINFILLFYKVSTSSVVE4529
RYR3KVEKPEAFTANFFKGLEIYQTKLLHYLARN>F<YNLRFLALFVAFAINFILLFYKVTEEPLEE4440
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4560 for RYR1.