Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
point mutation
|
| gptkbp:alsoKnownAs |
Glu6Val
|
| gptkbp:aminoAcidChange |
glutamic acid to valine
|
| gptkbp:cause |
sickle cell disease
|
| gptkbp:codonChange |
GAG to GTG
|
| gptkbp:discoveredBy |
gptkb:James_V._Neel
|
| gptkbp:effect |
hemoglobin polymerization
red blood cell sickling |
| gptkbp:firstDescribed |
1949
|
| gptkbp:frequency |
high in sub-Saharan Africa
|
| https://www.w3.org/2000/01/rdf-schema#label |
E6V (sickle cell mutation)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
chromosome 11
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:position |
position 6 of beta-globin
|
| gptkbp:protectedBy |
malaria
|
| gptkbp:regulates |
gptkb:HBB
|
| gptkbp:bfsParent |
gptkb:P20226
|
| gptkbp:bfsLayer |
7
|