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Table 1 Summary of different classes of CFTR mutations

From: Targeted therapies to improve CFTR function in cystic fibrosis

Mutation class Nature of defect Functional consequence Example Therapeutic strategy
I CFTR protein synthesis Reduced CFTR protein expression Gly542X Production correctors (ataluren)
II CFTR protein processing Misfolded CFTR not transported to cell surface Phe508del Corrector plus potentiator (lumacaftor plus ivacaftor, VX-661 plus ivacaftor)
III CFTR channel gating Reduced/lack of CFTR channel opening Gly551Asp Potentiator (ivacaftor)
IV CFTR channel conductance Misshaped CFTR pore restricts Cl movement Arg117His Potentiator (ivacaftor)
V Reduced CFTR protein production Very low levels of CFTR protein 3849 + 10 kb C → T No data available
VI High CFTR protein turnover at cell surface Functional but unstable CFTR protein at cell surface 120del23 No data available
  1. kb kilobases