Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation classes

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation classes

Class	Defect	Mutation examples
I	Defective protein production results in complete absence of functional CFTR protein.	G542X, W1282X, R553X
II	Defective protein processing. Misfolded CFTR protein is unable to reach the cell surface.	F508del, N1303K
III	Defective regulation. CFTR chloride channel gate does not open properly.	G551D
IV	Defective conductance of CFTR chloride channel.	R117H
V	Normal protein is created, but in insufficient quantities.	A455E

Mutations of the CFTR gene are divided into five classes. Examples of mutations in each class are listed. In general, mutations in classes I to III cause more severe disease than those in classes IV and V. Some therapies are directed at specific classes of CFTR mutations.

Graphic 122947 Version 6.0

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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation classes