Kwok Colin J, Martin Andrew C R, Au Shannon W N, Lam Veronica M S
Department of Biochemistry, University of Hong Kong, Hong Kong.
Hum Mutat. 2002 Mar;19(3):217-24. doi: 10.1002/humu.10036.
G6PDdb (http://www.rubic.rdg.ac.uk/g6pd/ or http://www.bioinf.org.uk/g6pd/) is a newly created web-accessible locus-specific mutation database for the human Glucose-6-phosphate dehydrogenase (G6PD) gene. The relational database integrates up-to-date mutational and structural data from various databanks (GenBank, Protein Data Bank, etc.) with biochemically characterized variants and their associated phenotypes obtained from published literature and the Favism website. An automated analysis of the mutations likely to have a significant impact on the structure of the protein has been performed using a recently developed procedure. The database may be queried online and the full results of the analysis of the structural impact of mutations are available. The web page provides a form for submitting additional mutation data and is linked to resources such as the Favism website, OMIM, HGMD, HGVBASE, and the PDB. This database provides insights into the molecular aspects and clinical significance of G6PD deficiency for researchers and clinicians and the web page functions as a knowledge base relevant to the understanding of G6PD deficiency and its management.
G6PD数据库(http://www.rubic.rdg.ac.uk/g6pd/ 或http://www.bioinf.org.uk/g6pd/)是一个新创建的可通过网络访问的特定基因座突变数据库,用于人类葡萄糖-6-磷酸脱氢酶(G6PD)基因。该关系型数据库整合了来自各种数据库(GenBank、蛋白质数据库等)的最新突变和结构数据,以及从已发表文献和蚕豆病网站获得的经过生化特征鉴定的变体及其相关表型。使用最近开发的程序对可能对蛋白质结构产生重大影响的突变进行了自动分析。该数据库可以在线查询,并且可以获得突变对结构影响分析的完整结果。网页提供了一个提交额外突变数据的表单,并链接到蚕豆病网站、《在线人类孟德尔遗传》、人类基因突变数据库、人类基因变异数据库和蛋白质数据库等资源。该数据库为研究人员和临床医生提供了对G6PD缺乏症分子层面和临床意义的见解,并且该网页作为一个与理解G6PD缺乏症及其管理相关的知识库发挥作用。