Department of Experimental Medical Science, Lund University, BMC D10, SE-22184, Lund, Sweden,
Hum Genet. 2015 Apr;134(4):405-21. doi: 10.1007/s00439-015-1529-6. Epub 2015 Jan 24.
Variations in proteins have very large number of diverse effects affecting sequence, structure, stability, interactions, activity, abundance and other properties. Although protein-coding exons cover just over 1 % of the human genome they harbor an disproportionately large portion of disease-causing variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein level. Systematic names are provided for all variation types, a more detailed description can be made by explaining changes to protein function, structure and properties. Examples are provided for the effects and mechanisms, usually in relation to human diseases. In addition, the examples are selected so that protein 3D structural changes, when relevant, are included and visualized. Here, systematics is described for protein variants based on VariO. It will benefit the unequivocal description of variations and their effects and further reuse and integration of data from different sources.
蛋白质变异具有非常多样化的影响，涉及序列、结构、稳定性、相互作用、活性、丰度和其他特性。尽管编码蛋白质的外显子仅占人类基因组的 1%多一点，但它们却包含了不成比例的大量致病变异。变异本体论（VariO）已被开发用于注释和描述变异效应、机制和后果。提供了蛋白质变异的整体视图，并提供了实际案例的示例。蛋白质变异可以是遗传起源的，也可以在蛋白质水平上出现。为所有变异类型提供了系统名称，通过解释对蛋白质功能、结构和特性的变化，可以进行更详细的描述。提供了有关效应和机制的示例，通常与人类疾病有关。此外，选择这些示例是为了包含和可视化相关的蛋白质 3D 结构变化。在此，根据 VariO 描述了蛋白质变异的系统学。这将有助于明确描述变异及其影响，并进一步重用和整合来自不同来源的数据。
