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Article

Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.

European journal of human genetics : EJHG - 1 Jan 2000

Jobert S, Bragado-Nilsson E, Samolyk D, Pedespan J M, Marchal C, Reichert S, Mallet J, Pitiot G

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder displaying a large spectrum of symptoms. Linkage studies have shown two loci, TSC1 in 9q34 and TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated and is shown to encode a protein, tuberin, from a 5.5-kb transcript. Mutation screening for both clinical diagnosis and identification of functional...

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Identifiers

PMID: 9412784

Genes

TSC2
TSC1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.PMID 9412784Read ↗

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.Semantic proximity Read ↗

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosisSemantic proximity Read ↗

Dissecting the Roles of the Tuberin Protein in the Subcellular Localization of the G2/M Cyclin, Cyclin B1Semantic proximity Read ↗

A de novo frame-shift mutation in the tuberin gene.Semantic proximity Read ↗

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complexSemantic proximity Read ↗

Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.Semantic proximity Read ↗

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.Semantic proximity Read ↗

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.Semantic proximity Read ↗

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.Semantic proximity Read ↗

Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.Semantic proximity Read ↗

Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.Semantic proximity Read ↗

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexSemantic proximity Read ↗

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