BTKbase，X连锁无丙种球蛋白血症（XLA）的突变数据库。
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
作者信息
Vihinen M, Iwata T, Kinnon C, Kwan S P, Ochs H D, Vorechovský I, Smith C I
机构信息
Department of Biosciences, University of Helsinki, Finland.
出版信息
Nucleic Acids Res. 1996 Jan 1;24(1):160-5. doi: 10.1093/nar/24.1.160.
Abstract
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. A decreased frequency of missense mutations was found in the TH, SH3 and upper lobe of the kinase domain. The putative structural implications of all the missense mutations are given in the database.
摘要
X连锁无丙种球蛋白血症（XLA）是一种由布鲁顿无丙种球蛋白血症酪氨酸激酶（BTK）编码基因突变引起的免疫缺陷病。现已汇编了一个BTK突变数据库（BTKbase），其最新更新列出了来自189个无亲缘关系家庭的225条记录，显示有148个独特的分子事件。为每位患者赋予了一个唯一的患者识别码（PIN）。其中包含了有关包括症状在内的表型的信息。已注意到BTK所有五个结构域中的突变均可导致该病，最常见的事件是错义突变。这些突变几乎均匀地出现在整个分子中，并经常影响形成精氨酸残基的CpG位点。在激酶结构域的TH、SH3和上叶中发现错义突变的频率降低。数据库中给出了所有错义突变的推定结构影响。
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