Missense3D-PTMdb:一个用于使用AlphaFold模型可视化和探索人类遗传变体和翻译后修改网站的Web工具.
Haotian Zhao1, Ryan Pye1, Grace Walker1
1Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London SW7 2AZ, UK.
Journal of molecular biology
|December 18, 2025
概括
一个新的网络工具,Missense3D-PTMdb,将数以百万计的人类误解变体映射到蛋白质结构中. 本资源有助于通过后翻译修改 (PTMs) 识别可能影响蛋白质功能的变异.
科学领域:
- 基因组学就是基因组学.
- 蛋白质组学是指蛋白质组学.
- 生物信息学是一种生物信息学.
背景情况:
- 数以百万计的人类误解变异缺乏已知的临床意义.
- 翻译后修改 (PTMs) 关键调节蛋白质的功能和结构.
- PTM依赖于特定氨基酸位点的蛋白质折叠和酶相互作用.
研究的目的:
- 在PTMs的背景下开发一个资源来探索误解变体.
- 利用AlphaFold模型来预测变体对PTM的影响.
- 为变种-PTM分析提供一个用户友好的平台.
主要方法:
- 整合了1150万个人类误解变体,具有>60种PTM类型.
- 用AlphaFold模型对20235种人类蛋白质进行了利用.
- 开发了一个交互式网络工具 (Missense3D-PTMdb) 用于序列结构映射.
主要成果:
- 创建了一个全面的数据库,链接变体,PTM站点和3D蛋白质结构.
- 启用了有关PTM的已知和新型变体的可视化.
- 绘制了203,775个PTM残留物及其邻近的变体.
结论:
- 误解3D-PTMdb促进了对影响PTM的误解变异的实验研究.
- 该工具增强了对变异对蛋白质功能影响的理解.
- 为基因变异解释和功能基因组学研究提供了宝贵的资源.
相关概念视频
Human Genetics
1.4K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.4K
Genetic Screens
5.5K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
Point and Frameshift Mutations
767
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
767


