Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
glycine to stop codon at position 542
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:effectOnProtein |
truncated CFTR protein
|
| gptkbp:frequency |
common in Mediterranean populations
|
| https://www.w3.org/2000/01/rdf-schema#label |
G542X
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CFTR_gene
nonsense mutation |
| gptkbp:result |
premature stop codon
|
| gptkbp:significance |
pathogenic
|
| gptkbp:bfsParent |
gptkb:ATP-binding_cassette_sub-family_C_member_7
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator gptkb:CFTR |
| gptkbp:bfsLayer |
7
|