what type of mutation is responsible for cystic fibrosis
CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, Î´F508, is a deletion (Î´ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.ifferent people may have different degrees of symptoms. CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Those with a single working copy are carriers and otherwise mostly normal.