Paralogue Annotation for RYR2 residue 4711

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4711
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4711

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G4782RCongenital myopathy & foetal akinesiaHigh9 26275793

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 RYR2.



RYR2DAREKKKPKKDSSLSAVLNSIDVKYQMWKL>G<VVFTDNSFLYLAWYMTMSVLGHYNNFFFAA4741
RYR1AHNER-KPNPPPGLLTWLMSIDVKYQIWKF>G<VIFTDNSFLYLGWYMVMSLLGHYNNFFFAA4812
RYR3PVEET-KA-EAASLVSWLSSIDMKYHIWKL>G<VVFTDNSFLYLAWYTTMSVLGHYNNFFFAA4644
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 4711 for RYR2.