ArticleComputational and mathematical methods in medicine2012
Analyzing effects of naturally occurring missense mutations.
Article in Computational and mathematical methods in medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed.
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- Single-nucleotide polymorphism analysis accurately predicts multiple impairments in hippocampal activity and memory performance in a murine model of idiopathic autism.Scientific reports · 2025Article
- AlphaMissenseR: an integrated framework for investigating missense mutations in human protein-coding genes.Bioinformatics advances · 2025Article
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- Computational analysis of polymorphic residues in maltose and maltotriose transporters of a wildOpen life sciences · 2025Article
- Exploring polymorphisms in genes encoding growth factors associated with non-syndromic cleft lip with or without cleft palate and tooth agenesis.Journal of applied oral science : revista FOB · 2025Article
- Transcriptome Analysis Unveils Molecular Mechanisms of Acaricide Resistance in Two-Spotted Spider Mite Populations on Hops.International journal of molecular sciences · 2024Article
- Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.Briefings in bioinformatics · 2024Article
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- Computational exploration ofBiochemistry and biophysics reports · 2024Article
- A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.PloS one · 2024Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein and how to assess their effects on protein wild-type characteristics. The existing methods and approaches for predicting the effects of mutation on protein stability, structure, and dynamics are outlined and discussed with respect to their underlying principles. Available resources, either as stand-alone applications or webservers, are pointed out as well. It is emphasized that understanding the molecular mechanisms behind these effects due to these missense mutations is of critical importance for detecting disease-causing mutations. The paper provides several examples of the application of 3D structure-based methods to model the effects of protein stability and protein-protein interactions caused by missense mutations as well.
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