Identification of a Cystic Fibrosis Mutation: Deletion of isoleucine506

Hum Genet. 1991 Feb;86(4):391-3. doi: 10.1007/BF00201841.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Chromosome Deletion*
  • Cystic Fibrosis / genetics*
  • Humans
  • Isoleucine*
  • Molecular Sequence Data
  • Mutation*
  • Oligonucleotide Probes
  • Polymerase Chain Reaction


  • Oligonucleotide Probes
  • Isoleucine