Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
glycine to stop codon
|
| gptkbp:associatedWith |
prion diseases
|
| gptkbp:foundIn |
humans
|
| https://www.w3.org/2000/01/rdf-schema#label |
G127X
|
| gptkbp:impactsProtein |
gptkb:prion_protein
|
| gptkbp:mutationAssociatedWith |
nonsense mutation
|
| gptkbp:position |
codon 127
|
| gptkbp:regulates |
gptkb:PRNP
|
| gptkbp:result |
premature stop codon
|
| gptkbp:bfsParent |
gptkb:superoxide_dismutase_1
|
| gptkbp:bfsLayer |
6
|