Structural bioinformatics survey on disease-inducing missense mutations
نویسندگان
چکیده
منابع مشابه
Bioinformatics Profiling of Missense Mutations
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the data...
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Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the protein coded by the gene-this poses a particularly challenging problem. Because it is not possible to predict the structural and functional cha...
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Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disease phenotypes, broadly termed as bestrophinopathies. A spontaneous animal model recapitulating BEST1related phenotypes, canine multifocal retinopathy (cmr), is caused by mutations in th...
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ژورنال
عنوان ژورنال: Journal of Bioinformatics and Computational Biology
سال: 2021
ISSN: 0219-7200,1757-6334
DOI: 10.1142/s0219720021500086