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Article

A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.

The Journal of biological chemistry - 5 Sept 1990

Moller D E, Yokota A, White M F, Pazianos A G, Flier J S

Abstract excerpt

We have identified a previously undescribed genetic variant of the insulin receptor (Ala1134----Thr1134) in a family with the Type A syndrome of insulin resistance. Using the polymerase chain reaction to amplify insulin receptor cDNA and genomic DNA (exon 19), this mutation was detected in 1/2 alleles in the proband, her two affected sisters, and her affected father. Two normal alleles were present in the...

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PMID: 2168397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance.PMID 2168397Read ↗

Substitution of glutamic acid for alanine 1135 in the putative "catalytic loop" of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity.Semantic proximity Read ↗

A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman.Semantic proximity Read ↗

Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.Semantic proximity Read ↗

Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. A mutation that impairs receptor tyrosine kinase activity, receptor endocytosis, and insulin action.Semantic proximity Read ↗

Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor.Semantic proximity Read ↗

Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity.Semantic proximity Read ↗

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.Semantic proximity Read ↗

Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action.Semantic proximity Read ↗

Functional properties of a heterozygous mutation (Arg1174-->Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient.Semantic proximity Read ↗

Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.Semantic proximity Read ↗

A leucine to proline mutation at position 233 in the insulin receptor inhibits cleavage of the proreceptor and transport to the cell surface.Semantic proximity Read ↗

Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.Semantic proximity Read ↗

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