Table 2 Exemplary mutations and molecular consequences of the 6 genetic classes.
From: Prognostication and Risk Factors for Cystic Fibrosis via Automated Machine Learning
Genetic class | Molecular consequence |
|---|---|
Class I | No functional protein produced |
Class II | Diminished protein processing |
Class III | Defective gating |
Class IV | Decreased conductance |
Class V | Abnormal splicing |
Class VI | Decreased cell surface stability |
Genetic class | Mutations |
Class I | G542X, W1282X, 1717-1G → A |
Class II | N1303K, ΔF508, A455E |
Class III | G551D, R117H, ΔF508 |
Class IV | R117H, R347H, R347P, R334W |
Class V | 621 + 1G → T, 3849 + 10kbC → T, 2789 + 5G → A |
Class VI | ΔF508 |
