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

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Science  07 Jul 1989:
Vol. 245, Issue 4913, pp. 66-68
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.