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About CF » CFTR mutations

CFTR mutations

Understanding how CFTR mutations influence disease prognosis

The CFTR mutation is quite common in the general population, with millions of asymptomatic carriers estimated in Europe and the United States. Nevertheless, as two mutant copies (or alleles) of the CFTR gene are required for the clinical manifestation of CF, the actual disease prevalence is significantly less than the carrier frequency.1 An individual with CF can carry an identical CFTR mutation on either allele, or two different CFTR mutations — one on each allele. Depending on the type of mutation, the effect on disease severity and prognosis can be quite different.1-3

For more information on specific CF mutations, please go to and

CFTR epidemiology

Discover more about the distribution of CFTR alleles among European populations.

Disease severity

Learn more about factors that influence disease severity and prognosis.

Classification of CFTR mutations

Discover more about the six classes of CFTR mutations and how they influence cell physiology.

  1. Bobadilla JL et al. Hum Mutat 2002;19:575–606
  2. Zielenski J. Respiration 2000;67:117–33
  3. Slieker MG et al. J Cyst Fibros 2005;4(Suppl 2):7–13