title: Identification of a cystic fibrosis mutation: deletion of isoleucine506.
abstract: The recent isolation of the cystic fibrosis (CF) gene has resulted in the identification of a common mutation (delta F508) that is found on about 70% of CF chromosomes and that comprises a deletion of 3 bp and results in the omission of Phe508 from within a putative ATP-binding domain of the predicted gene product. We describe a CF mutation that involves the deletion of 3 bp encoding Ile506 or Ile507. This is a rare mutation found in less than 1% of CF chromosomes and could be mistaken for delta F508 using the current methods for the molecular diagnosis of CF.
authors.affiliation: Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
authors.forename: P V
authors.initials: PV
authors.lastname: Nelson
authors.forename: W F
authors.initials: WF
authors.lastname: Carey
authors.forename: C P
authors.initials: CP
authors.lastname: Morris
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics*; D006801:Humans; D007532:Isoleucine; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction
chemical_list: D015345:Oligonucleotide Probes; D007532:Isoleucine