ΔF508 (Delta - F508, full name CFTRΔF508 or F508del - CFTR; rs113993960) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of three nucleotides spanning positions 507 and 508 of the CFTR gene on chromosome 7, which ultimately results in the loss of a single codon for the amino acid phenylalanine (F). A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue and which can not fold properly. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is by far the most common cause of cystic fibrosis (CF), responsible for nearly two - thirds of cases worldwide.
dna changes that produce the abnormal cystic fibrosis protein
ΔF508 (Delta - F508, full name CFTRΔF508 or F508del - CFTR; rs113993960)