Article

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: an in silico approach

2026-02-06

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes and is characterized by benign hamartoma formation in multiple organs. The TSC1–TSC2 complex regulates mTORC1 signaling in response to cellular growth conditions. This study aims to predict the structural stability and functional effects of non-synonymous single-nucleotide polymorphisms (nsSNPs) in hum...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 904da386-37d9-5a6c-b83b-7f0578919092
DOI: 10.64898/2026.02.04.703811

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: an in silico approachDOI 10.64898/2026.02.04.703811Read

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

Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis ComplexSemantic proximity Read

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.Semantic proximity Read

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read

An integrated, scaled approach to resolve TSC2 variants of uncertain significanceSemantic proximity Read

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.Semantic proximity Read

First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.Semantic proximity Read

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.Semantic proximity Read

Crystal structure of the yeast TSC1 core domain and implications for tuberous sclerosis pathological mutations.Semantic proximity Read

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.Semantic proximity Read

Updated Genotype-Phenotype Correlations in TSC.Semantic proximity Read