Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:aminoAcidChange |
Glu342Lys
|
| gptkbp:associatedWith |
gptkb:alpha-1_antitrypsin_deficiency
|
| gptkbp:effect |
reduced alpha-1 antitrypsin levels
|
| gptkbp:frequency |
most common severe deficiency allele in Caucasians
|
| https://www.w3.org/2000/01/rdf-schema#label |
Z allele
|
| gptkbp:inheritance |
autosomal codominant
|
| gptkbp:mutationAssociatedWith |
gptkb:SERPINA1_gene
|
| gptkbp:significance |
risk of emphysema
risk of liver disease |
| gptkbp:bfsParent |
gptkb:alpha-1-antitrypsin
|
| gptkbp:bfsLayer |
7
|