Table 1. Classes of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.
Type of mutation | Type of CFTR mutation | Percent of people with CF who have at least 1 mutations. |
Normal | CFTR protein is created and moves to the cell surface, allowing the transfer of chloride and water. | |
Class I | No functional CFTR protein is created | 22 percent |
Class II | CFTR protein is created but misfolds, keeping it from moving to the cell surface. This is called a trafficking defect. | 88 percent |
Class III | CFTR protein is created and moves to the cell surface but the channel gate does not open. This is called a defective channel regulation. | 6 percent |
Class IV | CFTR protein is created and moves to the cell surface but the channel function is faulty. This is called decreased channel conductance. | 6 percent |
Class V | Normal CFTR protein is created and moves correctly to the cell surface but not enough amount of the protein. This is called reduced synthesis of CFTR. | 5 percent |
Class VI | CFTR protein is created but it does not work properly at the cell membrane. This is called decreased CFTR stability. | 5 percent |