Li Minghui, Goncearenco Alexander, Panchenko Anna R
National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD, 20894, USA.
Methods Mol Biol. 2017;1550:235-260. doi: 10.1007/978-1-4939-6747-6_17.
In this review we describe a protocol to annotate the effects of missense mutations on proteins, their functions, stability, and binding. For this purpose we present a collection of the most comprehensive databases which store different types of sequencing data on missense mutations, we discuss their relationships, possible intersections, and unique features. Next, we suggest an annotation workflow using the state-of-the art methods and highlight their usability, advantages, and limitations for different cases. Finally, we address a particularly difficult problem of deciphering the molecular mechanisms of mutations on proteins and protein complexes to understand the origins and mechanisms of diseases.
在本综述中,我们描述了一种用于注释错义突变对蛋白质、其功能、稳定性和结合的影响的方案。为此,我们展示了一系列最全面的数据库,这些数据库存储了关于错义突变的不同类型的测序数据,我们讨论了它们之间的关系、可能的交集以及独特特征。接下来,我们建议使用最先进的方法进行注释工作流程,并强调它们在不同情况下的可用性、优点和局限性。最后,我们解决了一个特别困难的问题,即解读蛋白质和蛋白质复合物上突变的分子机制,以了解疾病的起源和机制。