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doi: 10.1016/j.neuroscience.2004.08.052, 30 ChenZ.YuanZ.YangS.ZhuY.XueM.ZhangJ.et al

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Most CFTR mutations are very rare except the deletion of phenylalanine 508 (Phe-508del or F508del), which is present in approximately 85% of CF patients worldwide (though with some local variations), ∼50% of whom bear two copies of the F508del allele, while the remaining patients bear one F508del allele combined with another loss-of-function mutation ( Distinct CFTR mutations can impair the synthesis, processing, PM stability, recycling or gating of CFTR protein with variable phenotypic consequences depending on the amount of residual functional protein