Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
Glycine to Serine
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
|
| gptkbp:effect |
increased kinase activity
|
| gptkbp:Entrez_Gene_ID |
gptkb:rs34637584
|
| gptkbp:frequency |
common in Ashkenazi Jewish population
common in North African Arab population |
| gptkbp:gene |
gptkb:LRRK2
|
| https://www.w3.org/2000/01/rdf-schema#label |
G2019S
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:OMIM |
609007.0001
|
| gptkbp:position |
2019
|
| gptkbp:bfsParent |
gptkb:LRRK2
|
| gptkbp:bfsLayer |
7
|