Table 1

Classes of CFTR mutations, their effects and potential treatments

Class numberConsequenceExemplar genotypePotential therapies
Class INo CFTR synthesis (premature stop codon)G542XPTC124
Class IICFTR processed incorrectly and does not reach apical cell membraneDF508VX-809
Class IIICFTR reaches apical membrane, but channel regulation is abnormalG551DVX-770
Class IVCFTR reaches apical membrane, but channel open time is reducedR334W
Class VReduced CFTR synthesisR117H
Class VICFTR reaches apical cell membrane, but has a shortened half life due to more rapid turnover1811+1.6kbA>G
  • CFTR, cystic fibrosis transmembrane regulator.