Statements (11)
Predicate | Object |
---|---|
gptkbp:instanceOf |
mutant
|
gptkbp:aminoAcidChange |
Alanine to Proline at position 30
|
gptkbp:associatedWith |
gptkb:Parkinson's_disease
|
gptkbp:discoveredIn |
1998
|
gptkbp:effect |
alters alpha-synuclein protein structure
promotes protein aggregation |
gptkbp:foundIn |
humans
|
https://www.w3.org/2000/01/rdf-schema#label |
A30P
|
gptkbp:mutationAssociatedWith |
gptkb:SNCA_gene
|
gptkbp:bfsParent |
gptkb:SNCA_gene_mutation
|
gptkbp:bfsLayer |
7
|