Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

Science. 1989 Jul 7;245(4913):66-8. doi: 10.1126/science.2544998.


Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site fo adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • Diabetes Mellitus, Type 2 / genetics*
  • Genes*
  • Humans
  • Insulin Resistance
  • Molecular Sequence Data
  • Mutation*
  • Protein-Tyrosine Kinases / genetics*
  • Receptor, Insulin / genetics*


  • Protein-Tyrosine Kinases
  • Receptor, Insulin