Article
Structural effects of extracellular loop mutations in CFTR helical hairpins.
Biochimica et biophysica acta. Biomembranes - 1 May 2018
Chang Yuan-Heng, Stone Tracy A, Chin Stephanie, Glibowicka Mira, Bear Christine E, Deber Charles M
Abstract excerpt
Missense mutations constitute 40% of 2000 cystic fibrosis-phenotypic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) database, yet the precise mechanism as to how a point mutation can render the entire 1480-residue CFTR protein dysfunctional is not well-understood. Here we investigate the structural effects of two CF-phenotypic mutations - glutamic acid to glycine at position 217...
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