Paralogue Annotation for RYR2 residue 4439

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4439
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4439

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1P4501LMalignant hyperthermia ?High5 19191329, 20981092, 21795085, 22995991

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.



RYR2V-QEKFQEQ--KA---KEEEKEEKEETKSE>P<EKAEGEDGEKEEKAKEDKGKQKLR------4463
RYR1P-ILKRKLGVDGVEEELPPEPEPEPEPELE>P<EKADAENGEKEEVPEPTPEPPKKQ------4525
RYR3TVQKKRKA---QA---AEMKAANEAEGKVE>S<EKADMEDGEKEDKDKEEEQAEYLWTEVTKK4372
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P4439Tc.13315C>A Putative BenignSIFT:
Polyphen: