Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:mutant
|
| gptkbp:aminoAcidChange |
glutamic acid to lysine at position 46
|
| gptkbp:associatedWith |
gptkb:Parkinson's_disease
Lewy body dementia |
| gptkbp:discoveredIn |
2004
|
| gptkbp:foundIn |
alpha-synuclein protein
|
| gptkbp:impact |
protein aggregation
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:regulates |
gptkb:SNCA
|
| gptkbp:bfsParent |
gptkb:SNCA_gene_mutation
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
E46K
|