Statements (14)
Predicate | Object |
---|---|
gptkbp:instanceOf |
mutant
|
gptkbp:aminoAcidChange |
Arginine to Glutamine
|
gptkbp:associatedWith |
gptkb:acute_myeloid_leukemia
myelodysplastic syndromes |
gptkbp:codonPosition |
140
|
gptkbp:foundIn |
gptkb:human
|
https://www.w3.org/2000/01/rdf-schema#label |
R140Q (IDH2)
|
gptkbp:mutationAssociatedWith |
missense
|
gptkbp:regulates |
gptkb:IDH2
|
gptkbp:result |
2-hydroxyglutarate accumulation
neomorphic enzyme activity |
gptkbp:targetOfDrug |
gptkb:enasidenib
|
gptkbp:bfsParent |
gptkb:IDH1/2_mutation
|
gptkbp:bfsLayer |
6
|