Delta F508

Delta F508

ΔF508 (delta-F508) is a shorthand that most likely refers to CFTRΔF508, also referred to as F508del-CFTR. This is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508. A person with the CFTRΔF508 mutation will produce CFTR protein that lacks this phenylalanine residue. This class 2 CFTR gene mutation produces an abnormal protein which does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is the leading cause of cystic fibrosis (CF).