Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
Arginine to Lysine
|
| gptkbp:associatedWith |
gptkb:cancer
gptkb:acute_myeloid_leukemia glioma |
| gptkbp:codonChange |
CGG to AAG
|
| https://www.w3.org/2000/01/rdf-schema#label |
R172K (IDH2)
|
| gptkbp:locatedOnChromosome |
gptkb:15q26.1
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:position |
172
|
| gptkbp:regulates |
gptkb:IDH2
|
| gptkbp:result |
production of 2-hydroxyglutarate
neomorphic enzyme activity |
| gptkbp:significance |
pathogenic
|
| gptkbp:target |
IDH2 inhibitors
|
| gptkbp:bfsParent |
gptkb:IDH1/2_mutation
|
| gptkbp:bfsLayer |
6
|