Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
Arginine to Glutamine
|
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
|
| gptkbp:foundIn |
gptkb:human
|
| https://www.w3.org/2000/01/rdf-schema#label |
R1275Q
|
| gptkbp:mutantAminoAcid |
gptkb:Glutamine
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:position |
1275
|
| gptkbp:regulates |
gptkb:SCN1A
|
| gptkbp:wildTypeAminoAcid |
Arginine
|
| gptkbp:bfsParent |
gptkb:anaplastic_lymphoma_kinase_(ALK)
|
| gptkbp:bfsLayer |
7
|