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J Mol Biol 2013 Nov 1;425(21):4023-33

A gene-specific method for predicting hemophilia-causing point mutations.

Hamasaki-Katagiri N, Salari R, Wu A, Qi Y, Schiller T, Filiberto AC, Schisterman EF, Komar AA, Przytycka TM, Kimchi-Sarfaty C


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 patients. Our hemophilia A-specific prediction tool 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.

Category: Journal Article
PubMed ID: #23920358 DOI: 10.1016/j.jmb.2013.07.037
Includes FDA Authors from Scientific Area(s): Biologics
Entry Created: 2013-05-09 Entry Last Modified: 2013-12-01