CFTR Mutation Classification: A basis for categorizing CFTR mutations
Different mutations in the CFTR gene can cause disruptions at various stages of CFTR protein synthesis or in several aspects of CFTR protein function. They can result in less CFTR protein at the cell surface, absence of CFTR protein, or dysfunctional CFTR protein at the cell surface.1
Traditionally, the CFTR class system groups CFTR mutations by the primary molecular defect in the CFTR protein. Although each mutation is categorized by a single defect, an individual mutation can result in multiple defects, spanning multiple classes.1,2
Traditional classification of CFTR mutation defects1,3
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