Paralogue Annotation for RYR2 residue 3889

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3889
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3889

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1Y3933CMalignant hyperthermiaHigh9 18564801, 22473935, 23558838, 24055113, 25637381, 25735680, 25958340, 26332594

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.



RYR2RTQTGNNTTVNIIISTVDYLLRVQESISDF>Y<WYYSGKDVIDEQGQRNFSKAIQVAKQVFNT3919
RYR1RTQTGNTTTINIIICTVDYLLRLQESISDF>Y<WYYSGKDVIEEQGKRNFSKAMSVAKQVFNS3963
RYR3RTQMGNTTTVNVIISTVDYLLRLQESISDF>Y<WYYSGKDIIDESGQHNFSKALAVTKQIFNS3815
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3889 for RYR2.