Notes in VI. Classes of CFTR mutations

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Status	Last Update	Fields
Published	12/09/2024	Classes of CFTR MutationsClass I CFTR mutations result in {{c1::premature termination}} of protein translation and are associated with a {{c2::complet…
Published	12/09/2024	Classes of CFTR MutationsClass II CFTR mutations involve {{c1::abnormal protein folding, processing, and trafficking}}. These proteins are degraded be…
Published	12/09/2024	Classes of CFTR MutationsThe most common CFTR mutation worldwide is a Class II mutation caused by deletion of three nucleotides coding for {{c1::pheny…
Published	12/09/2024	Classes of CFTR MutationsClass III CFTR mutations, also called {{c1::gating mutations}}, prevent activation of CFTR by abrogating {{c2::ATP binding an…
Published	12/09/2024	Classes of CFTR MutationsIn Class III mutations, there is a {{c1::normal amount}} of CFTR on the apical surface, but it is {{c2::nonfunctional}}.
Published	12/09/2024	Classes of CFTR MutationsClass IV CFTR mutations, also called {{c1::conduction mutations}}, occur in the {{c2::transmembrane domain}}, resulting in re…
Published	12/09/2024	Classes of CFTR MutationsClass V CFTR mutations, also called {{c1::production mutations}}, typically affect {{c2::intronic splice sites}} or the CFTR …
Published	12/09/2024	Classes of CFTR MutationsClass VI CFTR mutations are also called {{c1::instability mutations}} and result in fully processed and functional proteins w…
Published	12/09/2024	Classes of CFTR MutationsClass II CFTR mutations are associated with a {{c1::near-complete lack}} of CFTR protein at the apical surface of epithelial …
Published	12/09/2024	Classes of CFTR MutationsClass IV CFTR mutations result in a {{c1::normal amount}} of CFTR at the apical membrane but with {{c2::reduced chloride cond…
Published	12/09/2024	What is the effect of Class I CFTR mutations?
Published	12/09/2024	What happens to CFTR protein in Class VI mutations?
Published	12/09/2024	What is the main molecular lesion in Class IV CFTR mutations?
Published	12/09/2024	How do Class V CFTR mutations affect the protein?
Published	12/09/2024	What causes the most common CFTR mutation worldwide?
Published	12/09/2024	What is the main characteristic of Class III CFTR mutations?
Status	Last Update	Fields