Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.

doi:10.1210/mend-4-8-1183

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Article

Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.

Molecular endocrinology (Baltimore, Md.) - 1 Aug 1990

Moller D E, Yokota A, Ginsberg-Fellner F, Flier J S

Abstract excerpt

Based on the sequence of cDNA encoding the intracellular domain of the insulin receptor beta-subunit, we recently defined a heterozygous point mutation causing a Ser for Trp substitution at position 1200 in the tyrosine kinase domain of a patient (BI-2) with the type A syndrome of insulin resistance. We have now sequenced the remainder of BI-2's insulin receptor cDNA-coding region and find no additional...

Topics

Animals
Base Sequence
Cell Line
Cricetinae
DNA
Female
Humans
Insulin
Insulin Resistance
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphorylation

Polymerase Chain Reaction

Protein-Tyrosine Kinases

Receptor, Insulin

Serine

Transfection

Source

Open in PubMed

Identifiers

PMID: 1963473
DOI: 10.1210/mend-4-8-1183

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1963473-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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