ArticleBMC bioinformatics2002
The functional importance of disease-associated mutation.
Article in BMC bioinformatics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
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- Comparative analysis of web-based programs for single amino acid substitutions in proteins.PloS one · 2022Article
- Analysis of Polymorphisms in the Mediator Complex Subunit 13-like (Med13L) Gene in the Context of Immune Function and Development of Experimental Arthritis.Archivum immunologiae et therapiae experimentalis · 2018Article
- Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.Proteins · 2016Article
- Hereditary breast and ovarian cancer: new genes in confined pathways.Nature reviews. Cancer · 2016Review
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- Use of long term molecular dynamics simulation in predicting cancer associated SNPs.PLoS computational biology · 2014Article
- Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).Theranostics · 2014Article
- Article
- Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR).PloS one · 2012Article
- Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.PloS one · 2011Article
- An ancient evolutionary origin of genes associated with human genetic diseases.Molecular biology and evolution · 2008Article
- Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations.BMC evolutionary biology · 2008Article
- Enriching the analysis of genomewide association studies with hierarchical modeling.American journal of human genetics · 2007Article
- Multiple property tolerance analysis for the evaluation of missense mutations.Evolutionary bioinformatics online · 2007Article
- Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome.BMC genomics · 2006Article
- Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.Genome research · 2005Article
- SARS-CoV genome polymorphism: a bioinformatics study.Genomics, proteomics & bioinformatics · 2005Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFor many years, scientists believed that point mutations in genes are the genetic switches for somatic and inherited diseases such as cystic fibrosis, phenylketonuria and cancer. Some of these mutations likely alter a protein's function in a manner that is deleterious, and they should occur in functionally important regions of the protein products of genes. Here we show that disease-associated mutations occur in regions of genes that are conserved, and can identify likely disease-causing mutations.
resultsTo show this, we have determined conservation patterns for 6185 non-synonymous and heritable disease-associated mutations in 231 genes. We define a parameter, the conservation ratio, as the ratio of average negative entropy of analyzable positions with reported mutations to that of every analyzable position in the gene sequence. We found that 84.0% of the 231 genes have conservation ratios less than one. 139 genes had eleven or more analyzable mutations and 88.0% of those had conservation ratios less than one.
conclusionsThese results indicate that phylogenetic information is a powerful tool for the study of disease-associated mutations. Our alignments and analysis has been made available as part of the database at http://cancer.stanford.edu/mut-paper/. Within this dataset, each position is annotated with the analysis, so the most likely disease-causing mutations can be identified.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.