Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
alanine to valine
|
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
|
| gptkbp:effect |
rapid disease progression
|
| gptkbp:foundIn |
humans
|
| gptkbp:gene |
gptkb:SOD1
|
| https://www.w3.org/2000/01/rdf-schema#label |
A4V
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SOD1_gene
|
| gptkbp:notableFor |
gptkb:North_American_ALS_patients
|
| gptkbp:position |
codon 4
|
| gptkbp:bfsParent |
gptkb:SOD1
|
| gptkbp:bfsLayer |
5
|