Laboratory of Clinical Molecular Diagnostics, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy.
Blood Cells Mol Dis. 2012 Mar 15;48(3):154-65. doi: 10.1016/j.bcmd.2012.01.001. Epub 2012 Jan 30.
In the present paper we have updated the G6PD mutations database, including all the last discovered G6PD genetic variants. We underline that the last database has been published by Vulliamy et al. [1] who analytically reported 140 G6PD mutations: along with Vulliamy's database, there are two main sites, such as http://202.120.189.88/mutdb/ and www.LOVD.nl/MR, where almost all G6PD mutations can be found. Compared to the previous mutation reports, in our paper we have included for each mutation some additional information, such as: the secondary structure and the enzyme 3D position involving by mutation, the creation or abolition of a restriction site (with the enzyme involved) and the conservation score associated with each amino acid position. The mutations reported in the present tab have been divided according to the gene's region involved (coding and non-coding) and mutations affecting the coding region in: single, multiple (at least with two bases involved) and deletion. We underline that for the listed mutations, reported in italic, literature doesn't provide all the biochemical or bio-molecular information or the research data. Finally, for the "old" mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data.
在本文中，我们更新了 G6PD 突变数据库，其中包括所有最新发现的 G6PD 遗传变异。我们强调，最后一个数据库是由 Vulliamy 等人发表的[1]，他们分析报告了 140 种 G6PD 突变：除了 Vulliamy 的数据库外，还有两个主要的网站，如 http://202.120.189.88/mutdb/ 和 www.LOVD.nl/MR，几乎所有的 G6PD 突变都可以在这两个网站上找到。与以前的突变报告相比，在本文中，我们为每个突变都包含了一些额外的信息，如：突变涉及的二级结构和酶的 3D 位置，突变创建或废除的限制位点（涉及的酶）以及与每个氨基酸位置相关的保守评分。本报告中列出的突变根据涉及的基因区域（编码和非编码）以及影响编码区的突变进行了分类：单突变、多突变（至少涉及两个碱基）和缺失突变。我们强调，对于报告的斜体列出的突变，文献没有提供所有的生化或生物分子信息或研究数据。最后，对于“旧”突变，我们尝试验证先前报告的特征，并且在随后进行修改时，我们使用最新的文献数据更新了特定信息。
