Cystic Fibrosis Mutations

Ever wonder what your CF mutations mean?

The letters and numbers in your mutation represent what part of the CFTR is defective in your body. The capital letters are the single letter codes for amino acids. This infographic breaks down the significance of each part of a mutation and gives examples of a few common mutations.
(Note: in F508del, previously know as Δf508, “del” stands for deleted)

Advertisements