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Table 2 Classification of the CFTR gene mutations (Lubamba et al. [12]; De Boeck et al. [13])

From: The determinants of survival among adults with cystic fibrosis—a cohort study

Class Consequences List of mutations attributed
I CFTR is not synthesized because of stop codons or splicing defects. G542X, W1282X, R553X, 3950delT
II CFTR is synthesized but in an immature and is mostly degraded by the ubiquitin-proteasomal pathway. F508del, N1303K
III CFTR is synthesized and transported to the plasma membrane, but its activation and regulation by ATPor cAMP are disrupted. G551D, G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P, G1349D
IV CFTR is synthesized and expressed at the plasma membrane, but chloride conductance is reduced. R334W, G314E, R347P, D1152H
V CFTR synthesis or processing is partly defective. 3849+ 10 kb C→T, 3272-26 A→G, 2789+5G→A
Unclassified   All other mutations, including those unknown