Molecular consequence of mutations in the CFTR gene

Total CFTR current = density open probability conductance 

The number of channels synthesized, processed, and trafficked to the apical membrane and rate of CFTR internalization at the apical membrane determine the cell surface density. Mutations in CFTR that alter one or more of these parameters decrease total CFTR-mediated anion flux and impair epithelial cell function. 

Approximately 90% of CF patients carry a loss-of-function CFTR mutation on at least one allele that results in deletion of phenylalanine 508 (F508del) in the first CFTR nucleotide-binding domain [7]. The F508del prevents the proper domain folding and assembly of the multidomain CFTR protein during its biogenesis in the endoplasmic 

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