Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
hemoglobin
|
| gptkbp:aminoAcidChange |
glutamic acid to valine at position 6
|
| gptkbp:associatedWith |
sickle cell disease
|
| gptkbp:diagnosedBy |
hemoglobin electrophoresis
|
| gptkbp:discoveredBy |
gptkb:James_V._Neel
|
| gptkbp:discoveredIn |
1949
|
| gptkbp:effect |
causes red blood cells to sickle under low oxygen
|
| gptkbp:electrophoresisMobility |
different from HbA
|
| gptkbp:foundIn |
red blood cells
|
| gptkbp:fullName |
gptkb:Hemoglobin_S
|
| gptkbp:gene |
gptkb:HBB
|
| https://www.w3.org/2000/01/rdf-schema#label |
HbS
|
| gptkbp:ICD-10_code |
D57
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:molecularWeight |
approximately 64 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:beta-globin_gene
single nucleotide substitution |
| gptkbp:OMIM |
603903
|
| gptkbp:prevalence |
high in sub-Saharan Africa
|
| gptkbp:protectiveEffect |
partial protection against malaria
|
| gptkbp:significance |
causes vaso-occlusive crises
|
| gptkbp:bfsParent |
gptkb:Hemoglobin_electrophoresis
gptkb:hemoglobin_S |
| gptkbp:bfsLayer |
6
|