Class | Molecular dysfunction | Mutation |
---|---|---|
I | Defective protein production | G542X, 711+1G→T, 1609delCA, R1162X, 1717-8G→A, W1282X, 1782delA, Q890X, 1898+3A→G, CFTRdele19, 936delTA |
II | Defective protein processing | F508del, N1303K, I507del, R1066C |
III | Defective protein regulation | D1270N, G551D |
IV | Defective protein conductance | L206W, R334W, R117H, R347H, D836Y, P205S |
V | Partially defective production or processing | 2789+5G→A, 1811+1.6kbA→G, 3849+10kbC→T, 3272+26G→A |