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The CFTR protein is found in the top layer of specific cells. Made up of 1,480 amino acids—the building blocks of all proteins—these amino acids are grouped into five different sections called domains, which join to form the single chain protein. Two transmembrane domains (TMD1 and TMD2), two cytoplasmic nucleotide-binding domains (NBD1 and NBD2) and a regulatory (R) domain make up the regions. Since each domain has a different role in trying to send the chloride through the cell membrane, the severity of CF symptoms will depend upon which domain is affected. The most common mutation prevents the CFTR protein from reaching the membrane in the first place.
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