ArticlePloS one2017
Impact of genetic variation on three dimensional structure and function of proteins.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
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- Effects of rs3802177 G/A polymorphism on SLC30A8 mRNA and hsa-miR-183-5p in Malay women with gestational diabetes mellitus.Scientific reports · 2025Article
- Benzoylmesaconine alters the native structure and activity of hen egg white lysozyme: revealing possible mechanism of aconitum-induced toxicity.Forensic toxicology · 2025Article
- Genetic Variation in Drug Targets: Are We Ready for the Era of Precision Medicinal Chemistry?ACS medicinal chemistry letters · 2025Article
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- Decoding the effects of mutation on protein interactions using machine learning.Biophysics reviews · 2025Review
- Genome-wide identification, phylogeny, and expression analysis of PEBP gene family inFrontiers in genetics · 2025Article
- Computational exploration ofBiochemistry and biophysics reports · 2024Article
- In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene.Scientific reports · 2024Article
- Landscape of FLT3 Variations Associated with Structural and Functional Impact on Acute Myeloid Leukemia: A Computational Study.International journal of molecular sciences · 2024Article
- Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model.PNAS nexus · 2024Article
- Missense3D-TM: Predicting the Effect of Missense Variants in Helical Transmembrane Protein Regions Using 3D Protein Structures.Journal of molecular biology · 2024Article
- Domain Architecture Based Methods for Comparative Functional Genomics Toward Therapeutic Drug Target Discovery.Journal of molecular evolution · 2023Review
- Identifying potential ligand molecules EGFR mediated TNBC targeting the kinase domain-identification of customized drugs throughResearch in pharmaceutical sciences · 2023Article
- PSnpBind-ML: predicting the effect of binding site mutations on protein-ligand binding affinity.Journal of cheminformatics · 2023Article
- Predicting the effects of rare genetic variants on oncogenic signaling pathways: A computational analysis of HRAS protein function.Frontiers in chemistry · 2023Article
- Faltwerk: a library for spatial exploratory data analysis of protein structures.Bioinformatics advances · 2023Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Protein Data Bank (PDB; http://wwpdb.org) was established in 1971 as the first open access digital data resource in biology with seven protein structures as its initial holdings. The global PDB archive now contains more than 126,000 experimentally determined atomic level three-dimensional (3D) structures of biological macromolecules (proteins, DNA, RNA), all of which are freely accessible via the Internet. Knowledge of the 3D structure of the gene product can help in understanding its function and role in disease. Of particular interest in the PDB archive are proteins for which 3D structures of genetic variant proteins have been determined, thus revealing atomic-level structural differences caused by the variation at the DNA level. Herein, we present a systematic and qualitative analysis of such cases. We observe a wide range of structural and functional changes caused by single amino acid differences, including changes in enzyme activity, aggregation propensity, structural stability, binding, and dissociation, some in the context of large assemblies. Structural comparison of wild type and mutated proteins, when both are available, provide insights into atomic-level structural differences caused by the genetic variation.
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