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Article

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

PloS one - 1 Jan 2026

Alam Tasnim, Akther Shangida

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder resulting from the mutations in the TSC1 and TSC2 genes and is distinguished 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...

Read the complete abstract on PubMed

Topics

Humans
Tuberous Sclerosis Complex 2 Protein
Tuberous Sclerosis Complex 1 Protein
Polymorphism, Single Nucleotide
Tumor Suppressor Proteins
Protein Stability

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Molecular Dynamics Simulation

Computer Simulation

Mutation

Models, Molecular

Source

Open in PubMed Open full text

Identifiers

PMID: 42691045
DOI: 10.1371/journal.pone.0343189
PMCID: PMC13541133

Genes

TSC1
TSC2

Variants

rs1846545280
rs1846545280
rs1846545280
rs1846545280
rs1846545280

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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