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- Title
Bioinformatics Analysis of Non-Synonymous Single Nucleotide Polymorphisms in Human Adk Gene.
- Authors
Farrokh, P.
- Abstract
Adenosine kinase (ADK) controls adenosine levels. Abnormal concentration of adenosine lead to multiple disorders in humans. In this study, the effect of non-synonymous single nucleotide polymorphisms (nsSNPs) in human Adk was evaluated on the structure and function of long and short ADK isoforms (ADK-L and ADK-S) using computational tools. Of the 244 coding nsSNPs retrived in Adk, 66 amino acid changes were deleterious by at least five tools: SIFT, PhD-SNP, SNPs&GO, SuSPect, SNAP2, FATHMM, and PolyPhen-2. I-Mutant 2.0 and MUpro showed that among them, 26 substitutions had a strong destabilizing effect on both ADK isoforms. The conserved region and secondary structure of ADK isoforms were predicted by the ConSurf and NetSurfP-3.0 servers, respectively. The HOPE server displayed that 11 nsSNPs, due to the change in amino acid properties, had adverse effects on ADK isoforms. Docking analysis showed that L151 and F218 in ADK-L and their corresponding residues in ADK-S are located in the ligand-binding site and their mutations changed the cavity structure or ligand binding affinity. In conclusion, this study, by using computational methods, identified 11 harmful nsSNPs in human Adk. These predictive results facilitate the association of these nsSNPs with disease susceptibility in population studies.
- Subjects
SINGLE nucleotide polymorphisms; LIGAND binding (Biochemistry); HUMAN genes; DISEASE susceptibility; BIOINFORMATICS; ADENOSINES
- Publication
Russian Journal of Genetics, 2024, Vol 60, Issue 6, p828
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795424700273