ArticleJournal of molecular biology2013
A gene-specific method for predicting hemophilia-causing point mutations.
Article in Journal of molecular biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Article
- New approaches to predict the effect of co-occurring variants on protein characteristics.American journal of human genetics · 2021Article
- A Code Within a Code: How Codons Fine-Tune Protein Folding in the Cell.Biochemistry. Biokhimiia · 2021Review
- Protein residue network analysis reveals fundamental properties of the human coagulation factor VIII.Scientific reports · 2021Article
- Prediction of hemophilia A severity using a small-input machine-learning framework.NPJ systems biology and applications · 2021Article
- Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.American journal of human genetics · 2021Review
- Article
- In Silico Study of Correlation between Missense Variations ofTurkish journal of haematology : official journal of Turkish Society of Haematology · 2020Article
- Variation benchmark datasets: update, criteria, quality and applications.Database : the journal of biological databases and curation · 2020Article
- Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.Molecular genetics & genomic medicine · 2019Article
- Protein-Engineered Coagulation Factors for Hemophilia Gene Therapy.Molecular therapy. Methods & clinical development · 2019Review
- Analysis of the VSX1 gene in sporadic keratoconus patients from China.BMC ophthalmology · 2017Article
- The importance of mRNA structure in determining the pathogenicity of synonymous and non-synonymous mutations in haemophilia.Haemophilia : the official journal of the World Federation of Hemophilia · 2017Article
- ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.Cerebellum & ataxias · 2016Article
- Types and effects of protein variations.Human genetics · 2015Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
Abstract
A fundamental goal of medical genetics is the accurate prediction of genotype-phenotype correlations. As an approach to develop more accurate in silico tools for prediction of disease-causing mutations of structural proteins, we present a gene- and disease-specific prediction tool based on a large systematic analysis of missense mutations from hemophilia A (HA) patients. Our HA-specific prediction tool, HApredictor, showed disease prediction accuracy comparable to other publicly available prediction software. In contrast to those methods, its performance is not limited to non-synonymous mutations. Given the role of synonymous mutations in disease and drug codon optimization, we propose that utilizing a gene- and disease-specific method can be highly useful to make functional predictions possible even for synonymous mutations. Incorporating computational metrics at both nucleotide and amino acid levels along with multiple protein sequence/structure alignment significantly improved the predictive performance of our tool. HApredictor is freely available for download at http://www.ncbi.nlm.nih.gov/CBBresearch/Przytycka/HA_Predict/index.htm.
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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.