title: A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.
abstract: During the development of an amplification refractory mutation system (ARMS) assay for the detection of the Delta F508 mutation and corresponding normal locus in cystic fibrosis we discovered a family in which a further variant of the sequence exists. PCR amplification and direct sequencing of a region of exon 10 of the CFTR locus indicated the deletion of the three base pairs encoding isoleucine or isoleucine, or possibly the presence of a single base substitution in conjunction with the Delta F508 mutation. The resulting protein has a deletion of an isoleucine residue at position 507 as opposed to the previously described deletion of phenylalanine at position 508. We conclude that the loss of an isoleucine residue at position 507 (Delta I507) is another defective variant of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene product.
authors.affiliation: Paediatric Genetics Unit, Royal Manchester Children's Hospital, UK.
authors.forename: M
authors.initials: M
authors.lastname: Schwarz
authors.forename: C
authors.initials: C
authors.lastname: Summers
authors.forename: L
authors.initials: L
authors.lastname: Heptinstall
authors.forename: C
authors.initials: C
authors.lastname: Newton
authors.forename: A
authors.initials: A
authors.lastname: Markham
authors.forename: M
authors.initials: M
authors.lastname: Super
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA