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Mutation G149R
- Question
- Hello,
I would like to know what is the class of the G149R mutation?
Thank you for your answer - Answer
- Hello,
This mutation is rare. It is not reported in the international database CFTR2, the most important for CF patients. In the CFTR-France database, it is however reported 4 times in patients diagnosed with cystic fibrosis, exocrine pancreatic insufficiency and markedly positive sweat test.
Despite the low number of reported cases, this change can be considered as "CF-causing," say it causes cystic fibrosis when combined with another "CF-causing" mutation. The mutation is probably class 2 or 3, but it is difficult to say because we do not know at this time if the protein is expressed on the membrane.
Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
with the contribution of
Marie-Pierre AUDREZET, molecular genetic laboratory, UJ Brest, France
- 07.06.2015
