The Delta F508 mutation is one of the most common genetic mutations associated with cystic fibrosis (CF). It occurs in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This mutation involves the deletion of three nucleotides, which leads to the absence of the amino acid phenylalanine at position 508 in the protein sequence. This deletion impairs the protein's function, leading to the characteristic symptoms of CF.
