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) |