Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
CFTR gene mutation
|
| gptkbp:affects |
chloride channel function
|
| gptkbp:aminoAcidChange |
glycine to aspartic acid at position 551
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:foundIn |
gptkb:CFTR_gene
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
G551D
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:response |
gptkb:ivacaftor
|
| gptkbp:significance |
causes defective CFTR protein gating
|
| gptkbp:bfsParent |
gptkb:ATP-binding_cassette_sub-family_C_member_7
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator gptkb:CFTR |
| gptkbp:bfsLayer |
7
|