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. 1983 Oct;80(20):6366–6370. doi: 10.1073/pnas.80.20.6366

Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.

M Haneda, S J Chan, S C Kwok, A H Rubenstein, D F Steiner
PMCID: PMC394298  PMID: 6312455

Abstract

Both alleles of the insulin gene of a patient with mild diabetes [maturity-onset-diabetes-of-the-young (MODY)-type syndrome] associated with hyperinsulinemia have been cloned, and the sequences have been determined. One allele contained a mutation (single nucleotide transition) in the coding sequence for the B chain at position 24 (TTC leads to TCC), resulting in the loss of a restriction enzyme (Mbo II) cleavage site in the gene. This mutation results in the substitution of serine for phenylalanine in a critically important region of the insulin molecule that is intimately involved in receptor binding. Both insulin alleles were of the alpha type and, aside from a single nucleotide deletion in the 5' region of the normal allele, their sequences were identical to those previously determined.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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