Cystic Fibrosis Mutations: Class I

Class I Mutations:

An example of a Cystic Fibrosis nonsense-stop mutation is G542X.

This class includes premature termination codons (PTCs)- a point mutation in the DNA sequence that results in a premature stop. Missing information is the cause of the premature stop and as a result, the protein product is usually nonfunctional and incomplete. The missing genetic information stops cells from making complete CFTR proteins.

Lung function range in patients with G542X:

This chart was created with data from CFTR2.org and CFF.org