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. 2020 Apr 20;3:179. doi: 10.1038/s42003-020-0909-1

Table 1.

The seven classes of CFTR defects, with examples.

Class Explanation Example
I defective synthesis of the protein G542X
II defective trafficking to the cell membrane F508del
III decreased ability to open, even though it is present at the cell surface G551D
IV decreased ability to conduct ions, even though the gate can open R347P
V decreased amount of post-translationally processed, fully active CFTR A455E
VI decreased stability at the surface N287Y
VII absence of mRNA del2,3(21kb)