Common CFTR Mutations: Effects on total CFTR activity
The degree to which a CFTR mutation reduces CFTR quantity or function (or both) at the cell surface contributes to the total CFTR activity of the cell.1,2
How CFTR mutations affect molecular, functional, and clinical phenotypes
Click on a link below to download a mini slide deck presentation for any of the 20 most common CFTR mutations worldwide. Learn about:
- Prevalence and epidemiology
- Molecular phenotype: effect on CFTR protein quantity or function
- Functional phenotype: effect on total CFTR activity
- Clinical phenotype
- Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ. Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature. 1993;362(6416):160-164.
- Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67(2):117‐133.