BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
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DOI：
10.1093/nar/25.1.166
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发表时间：
1997-01-01
影响因子：
14.9
通讯作者：
Smith, CIE
中科院分区：
文献类型：
--
作者：
Vihinen, M;Belohradsky, BH;Smith, CIE
X连锁无丙种球蛋白血症(XLA)是一种由Bruton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。已经编制了BTK突变的数据库(BTKbase)，最近的更新列出了来自318个无关家族的368个条目，显示了228个独特的分子事件。除了突变之外，数据库还列出了一些多态和定点突变。每个患者都有一个唯一的患者识别码(PIN)。提供了包括症状在内的表型的信息。BTK所有五个结构域的突变都被认为是导致疾病的原因，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。这些热点一般有5‘嘧啶和3’嘌呤突变的胞嘧啶。在TH、SH3和激酶域的上叶发现错义突变的频率降低，所有错义突变的推测结构含义在数据库中给出，显示了228个独特的分子事件，包括一个新的错义突变导致R28C替换，就像以前在XID小鼠中看到的那样。
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 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed mutations. Each patient is given a unique patient identity number (PIN). Information is provided 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. These hot spots have generally pyrimidines 5' and purines 3' to the mutated cytosine. A decreased frequency of missense mutations was found in the TH, SH3 and the upper lobe of the kinase domain, The putative structural implications of all the missense mutations are given in the database showing 228 unique molecular events, including a novel missense mutation causing an R28C substitution as previously seen in the Xid mouse.