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CFTR Mutation Classification: A basis for categorizing CFTR mutations

Different mutations in the CFTR gene can cause disruptions at various stages of CFTR protein synthesis or in several aspects of CFTR protein function. They can result in less CFTR protein at the cell surface, absence of CFTR protein, or dysfunctional CFTR protein at the cell surface.1

Traditionally, the CFTR class system groups CFTR mutations by the primary molecular defect in the CFTR protein. Although each mutation is categorized by a single defect, an individual mutation can result in multiple defects, spanning multiple classes.1,2

Traditional classification of CFTR mutation defects1,3

Classification of CFTR mutations by type of defect

Understand how a reduction in functional CFTR protein causes CF.

    References:
  1. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67(2):117‐133.
  2. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell. 1993;73(7):1251-1254.
  3. Wang Y, Wrennall JA, Cai Z, Li H, Sheppard DN. Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. Int J Biochem Cell Biol. 2014;52C:47-57. doi:10.1016/j.biocel.2014.04.001.