|cystic fibrosis, delta F508|
|| Cystic Fibrosis; homozygote for delta F-508 mutation
|| carrier of a cystic fibrosis allele
One of the best-known genetic mutations, rs113993960
is also called delta508 or delta F508. It results in the loss of a phenylalanine (F) residue at amino acid position 508 of the cystic fibrosis CFTR
gene. As first reported in 1989, about 70% of all cystic fibrosis
patients carry this mutation. [PMID 2567116
Cystic fibrosis is inherited in a recessive manner, so homozygotes for rs113993960(-;-), and less commonly, compound heterozygotes carrying one rs113993960(-) allele in addition to one other nonfunctional CFTR variant, are prone to developing cystic fibrosis.
See also i3000001 and i5011261 (the designations used by 23andMe for this SNP).
[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.