Monday, December 29, 2014

Cystic Fibrosis Mutations: Class II

Class II  Mutations:

An example of a Cystic Fibrosis class II mutation is Delta F508

This class contains a defective CFTR protein processing and trafficking. The post translational processing and transport reduce the number of CFTR proteins that are delivered to the cell surface.The protein is unable to fold correctly.

Lung function range in patients with Delta F508:


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

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