Functional class | "Severe" CFTR mutations | "Mild" CFTR mutations |
If 2 of these mutations are present, there is a high likelihood of pancreatic insufficiency[1,2] | If at least 1 of these mutations is present, most patients have pancreatic sufficiency[1,2] | |
Class I (defective protein synthesis) | G542X W1282X R553X 621+1G>T 1717–1G>A 3120+1G>A R1162X 3659delC 1898+1G>A 2184delA 711+1G>T | |
Class II (abnormal processing and trafficking) | F508del I507del | |
Class III (defective channel regulation/gating) | G551D N1303K R560T | G85E* |
Class IV (decreased channel conductance) | R117H R347P¶ R334WΔ | |
Class V (reduced synthesis and/or trafficking) | 3849+10kbC>TΔ 2789+5G>A A445E |
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