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 |
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