The Factor VIII Structure and Mutation Resource Site: HAMSTeRS Version 4
The Factor VIII Structure and Mutation Resource Site: HAMSTeRS Version 4
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DOI：
10.1093/nar/26.1.216
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发表时间：
1998-01-01
影响因子：
14.9
通讯作者：
Wacey, AI
中科院分区：
文献类型：
--
作者：
Kemball-Cook, G;Tuddenham, EGD;Wacey, AI
自1996年以来，（血友病A突变、搜索、测试和资源网站）WWW网站提供了一个在线资源，用于访问血友病A分子病理学数据，取代了《核酸研究》上发表的血友病A数据库的先前文本版本。（第4版），特别是因子VIII（FVIII）结构相关特征的扩展，通过定制设计的表格访问突变数据库本身，用于搜索列表和提交新突变：在1997年期间，总共报道了22个新的错义突变，将现在描述的独特变体的总数增加到252个（238个在外显子序列中，14个在内含子剪接点处）。目前，共有586份具有相关表型数据的个体报告可用于按任何类别（包括表型）进行搜索。FVIII结构部分现在包括以蛋白质数据库格式下载的FVIII A结构域同源性模型和来自四个物种的FVIII氨基酸序列的多重比对（人、鼠、猪和犬）除了虚拟现实模拟、二级结构数据和FVIII动画之外，最后，为了帮助在该网站上导航，主要特征的可点击路线图提供了对所需页面的轻松访问，我们的意图是该网站的持续开发和更新将为分子和结构生物学领域的工作者提供一站式资源网站，以促进FVIII研究和教育，HAMSTeRS URL为http://europium.mrc.rpms.ac.uk。
Since 1996 the HAMSTeRS (Haemophilia A Mutation, Search, Test and Resource Site) WWW site has provided an online resource for access to data on the molecular pathology of haemophilia A, replacing previous text editions of the Haemophilia A Database published in Nucleic Acids Research, This report describes the continued development of the site (version 4), and in particular the expansion of factor VIII (FVIII) structure-related features, Access to the mutation database itself, both for searching the listings and for submission of new mutations, is via custom-designed forms: more powerful Boolean searches of the point mutations in the database are also available, During 1997 a total of 22 novel missense mutations were reported, increasing the total number of unique variants now described to 252 (238 in exonic sequences and 14 at intronic splice junctions). Currently, a total of 586 individual reports with associated phenotypic data are available for searching by any category including phenotype. The FVIII structure section now includes a download of a FVIII A domain homology model in Protein Data Bank format and a multiple alignment of the FVIII amino-acid sequencies from four species (human, murine, porcine and canine) in addition to the virtual reality simulations, secondary structural data and FVIII animation already available, Finally, to aid navigation across this site, a clickable roadmap of the main features provides easy access to the page desired, Our intention is that continued development and updating of the site shall provide workers in the fields of molecular and structural biology with a one-stop resource site to facilitate FVIII research and education, The HAMSTeRS URL is http://europium.mrc.rpms.ac.uk.