Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the 鈥渙ld鈥?and update of the new mutations

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• 作者：Angelo Minucci^a ; ^{angelo.minucci@virgilio.it} ; ^{angelo.minucci@rm.unicatt.it} ; Kamran Moradkhani^b ; Ming Jing Hwang^c ; Cecilia Zuppi^a ; Bruno Giardina^a ; Ettore Capoluongo^a ; ¹ ; ^{ecapoluongo@rm.unicatt.it}
• 关键词：G6PD mutations ; LOVD ; Favism ; RBC enzyme deficiency
• 刊名：Blood Cells ; Molecules ; and Diseases
• 出版年：2012
• 期刊代码：277_10799796
• 类别：med
• 出版时间：15 March, 2012
• 卷：48
• 期：3
• 页码：154-165
• 文件大小：391 K

摘要

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 and , 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 鈥渙ld鈥?mutations, we tried to verify features previously reported and, when subsequently modified, we updated the specific information using the latest literature data.