Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
amino acid substitution
|
| gptkbp:alsoKnownAs |
E6V
HbS mutation |
| gptkbp:aminoAcidChange |
glutamic acid to valine
|
| gptkbp:cause |
sickle cell disease
|
| gptkbp:discoveredBy |
gptkb:Linus_Pauling
|
| gptkbp:effect |
alters hemoglobin structure
promotes hemoglobin polymerization |
| gptkbp:firstDescribed |
1949
|
| gptkbp:foundIn |
gptkb:HBB_gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Glu6Val (sickle cell)
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:beta-globin_gene
missense mutation |
| gptkbp:position |
6
|
| gptkbp:significance |
causes red blood cell sickling
|
| gptkbp:bfsParent |
gptkb:HBB_gene
|
| gptkbp:bfsLayer |
6
|