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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

F508del
PDF    PPT

G542X
PDF    PPT

G551D
PDF    PPT

N1303K
PDF    PPT

W1282X
PDF    PPT

621+1G→T
PDF    PPT

R117H
PDF    PPT

R553X
PDF    PPT

1717-1G→A
PDF    PPT

2789+5G→A
PDF    PPT

3849+10kbC→T
PDF    PPT

R1162X
PDF    PPT

I507del
PDF    PPT

G85E
PDF    PPT

2183AA→G
PDF    PPT

CFTRdele2,3
PDF    PPT

3120+1G→A
PDF    PPT

3659delC
PDF    PPT

1898+1G→A
PDF    PPT

R347P
PDF    PPT


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Read more about genotype and the clinical CF phenotype.

    References:
  1. 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.
  2. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67(2):117‐133.