The CFTR2 project is partially supported by Grant Number 5R37DK044003 from the
National Institute of Digestive, Diabetes and Kidney Diseases of the National Institutes of Health, by funding from the US Cystic Fibrosis
Foundation, and by an unrestricted educational grant from Sequenom to the US Cystic Fibrosis Foundation.
Welcome to the Clinical and
Translation of CFTR (CFTR2) website
CFTR2 is a website designed to provide information about
specific cystic fibrosis (CF) mutations to patients, researchers, and the general public.
For each mutation included in the database, the website will provide information about:
Whether the mutation causes cystic fibrosis when combined with another CF-causing mutation, and
Information about the sweat chloride, lung function, pancreatic status, and pseudomonas infection rates
in patients in the CFTR2 database with this mutation.
Information on the CFTR2 website is being updated as further analysis is completed. The most up-to-date clinical information and results of functional testing are available on individual mutation pages. For a complete list of CFTR2 mutations and their characterizations, please visit CFTR2 Mutation List History (available under the Quick Links menu)
The CFTR2 project has recently undergone an update, increasing the number of patient included from ~35,000 to over 88,000 patients from 41 countries around the world. Clinical data for specific CFTR mutations may have changed slightly with this update. Additional mutations are also now available for search. Additional mutations and any mutation characterization updates can be viewed under “CFTR2 Mutation List History” in QuickLinks menu.
Permitted use available to clinicians, patients, and family members for clinical, research, and educational uses only. All other rights reserved.
Please use the following reference when citing this website: The Clinical and Functional TRanslation of CFTR (CFTR2); available at http://cftr2.org. @ Copyright 2011 US CF Foundation, Johns Hopkins University, The Hospital for Sick Children.