Codon 39 nonsense (beta-thalassemia)
GPTKB entity
Statements (15)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:aminoAcidChange |
CAG>TAG
Gln39Ter |
gptkbp:associatedWith |
gptkb:beta-thalassemia
|
gptkbp:commonIn |
gptkb:Mediterranean_populations
|
gptkbp:Entrez_Gene_ID |
rs11549407
|
https://www.w3.org/2000/01/rdf-schema#label |
Codon 39 nonsense (beta-thalassemia)
|
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 |
6
|