Statements (12)
Predicate | Object |
---|---|
gptkbp:instanceOf |
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
|
https://www.w3.org/2000/01/rdf-schema#label |
E46K
|
gptkbp:impact |
protein aggregation
|
gptkbp:mutationAssociatedWith |
missense mutation
|
gptkbp:regulates |
gptkb:SNCA
|
gptkbp:bfsParent |
gptkb:SNCA_gene_mutation
|
gptkbp:bfsLayer |
7
|