answers.input_text: short
answers.span_text: deletion of three nucleotides spanning positions 507 and 508 of the CFTR gene on chromosome 7
questions: what dna changes produce the delta f508 mutation
name: ΔF508
contexts: 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 .