Effects of the delta F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR.

Abstract excerpt

The fatal autosomal recessive disease cystic fibrosis (CF) is caused by mutations in the gene which encodes the cystic fibrosis transmembrane conductance regulator (CFTR). Many of these disease-causing mutations, including the deletion of F508 (delta F508) which accounts for approximately 70% of...

Topics

• Amino Acid Sequence
• Binding Sites
• Cystic Fibrosis Transmembrane Conductance Regulator
• Humans
• Ion Channels
• Membrane Proteins
• Molecular Sequence Data
• Mutation
• Nucleotides
• Peptide Fragments
• Protein Folding
• Protein Structure, Secondary
• Sequence Deletion