Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
point mutation
|
| gptkbp:alsoKnownAs |
E6V
HbS mutation |
| gptkbp:aminoAcidChange |
GAG to GTG
glutamic acid to valine |
| gptkbp:associatedWith |
sickle cell disease
|
| gptkbp:effect |
alters hemoglobin structure
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glu6Val in beta-globin
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
11
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:position |
6
|
| gptkbp:proteinAffected |
beta-globin
|
| gptkbp:regulates |
gptkb:HBB
|
| gptkbp:bfsParent |
gptkb:sickle_cell_anemia
|
| gptkbp:bfsLayer |
6
|