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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.
1 Deletion of Phe508 in cystic fibrosis transmembrane conductance regulator causes cystic fibrosis; only coexpression with wild-type N-half promotes maturation of C-half of CFTR. 2  Genetic mutations may be grouped by class (I-VI) and are related to quantity of CFTR protein produced. The frameshift mutation 3905insT is one of the most common CFTR mutations in the Swiss population with cystic fibrosis. 2  Structure and dynamics of NBD1 from CFTR. 3  These results suggest the possibility of an interaction between CFTR and the TJ protein complex, probably via the cytoskeleton.