Codon 39 nonsense (beta-thalassemia)
GPTKB entity
Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:aminoAcidChange |
CAG>TAG
Gln39Ter |
| gptkbp:associatedWith |
gptkb:beta-thalassemia
|
| gptkbp:commonIn |
gptkb:Mediterranean_populations
|
| gptkbp:Entrez_Gene_ID |
rs11549407
|
| gptkbp:mutationAssociatedWith |
nonsense mutation
|
| gptkbp:OMIM |
603902.0003
|
| gptkbp:regulates |
gptkb:HBB
|
| gptkbp:result |
premature stop codon
truncated beta-globin protein |
| gptkbp:significance |
causes beta-thalassemia major
|
| gptkbp:bfsParent |
gptkb:HBB_gene
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Codon 39 nonsense (beta-thalassemia)
|