Statements (11)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:aminoAcidChange |
isoleucine to threonine
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
|
| gptkbp:effect |
protein misfolding
|
| gptkbp:foundIn |
humans
|
| https://www.w3.org/2000/01/rdf-schema#label |
I113T
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SOD1_gene
|
| gptkbp:position |
113
|
| gptkbp:bfsParent |
gptkb:SOD1
|
| gptkbp:bfsLayer |
5
|