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Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study
Ruojun Zhang1, Nahid Akhtar2, Atif Khurshid Wani2
1School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
Life (Basel, Switzerland)
|July 29, 2023
Summary
This study identified 12 deleterious AKT1 gene mutations, including four at conserved residues, that may impact protein function. One mutation (R273Q) is linked to liver cancer, aiding disease diagnosis and drug development.
Area of Science:
- Genetics and Molecular Biology
- Bioinformatics and Computational Biology
Background:
- The AKT1 gene encodes a serine/threonine kinase crucial for cell apoptosis, angiogenesis, metabolism, and proliferation.
- AKT1 gene mutations are implicated in various cancers and genetic disorders like Proteus and Cowden syndromes.
Purpose of the Study:
- To identify deleterious missense single nucleotide polymorphisms (SNPs) in the AKT1 gene.
- To predict the functional and structural impact of these AKT1 SNPs using computational tools.
Main Methods:
- In silico analysis of the human AKT1 gene to identify deleterious missense SNPs.
- Assessment of SNP impact on AKT1 protein structure and function.
- Analysis of the association between identified SNPs and cancer types.
Main Results:
- Identified 12 highly deleterious AKT1 SNPs affecting protein structure and function.
- Four SNPs (G157R, G159V, G336D, H265Y) are located at conserved residues.
- SNP G157R may impact ligand binding; SNP R273Q is associated with liver cancer.
Conclusions:
- Findings support the utility of computational approaches for SNP identification and disease association studies.
- Identified SNPs can inform pharmacogenomics and molecular diagnostics for AKT1-related diseases.
- This research aids in developing targeted inhibitors for the AKT1 oncogene.
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