功能化验测试14致病性cystathionine-beta合酶突变。
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Urreizti R, Asteggiano C, Cozar M,弗兰克•N Vilaseca马格林贝格D, Balcells年代
功能化验测试14致病性cystathionine-beta合酶突变。
哼Mutat。2006年2月,27 (2):211。
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16429402 (在PubMed]
- 文摘
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在这项研究中,14 CBS等位基因在大肠杆菌和homocystinuric患者表示不同的体外酶活性被化验。此外,突变CBS蛋白质被免疫印迹变性和可视化non-denaturing聚丙烯酰胺凝胶。14突变的特点是:p。R125W (c.373C > T), p。G148R (c.442G >), p。M173V (c.517A > G), p。T191M (c.572C > T), p。A226T (c.676G >), p。C275Y (c.824G >), p。R336C (c.1006C > T), p。R336H (c.1007G >), p。L338P (c.1013T > C), p。S349N (c.1046G >), p。R379Q (c.1136G >), p。L456P (c.1367T > C), p。G522fsX540 (c.1566delG), p。R548Q (c.1643G >)。11的突变等位基因表现出一个活动低于野生型蛋白的4%。相比之下,突变p。A226T和p。M173V野生型活动的20%和40%,分别,而p的活动。R548Q是野生型的60%。这表明这是一个新的罕见变异,而不是一个致病突变。大多数的突变蛋白表现出信号在免疫印迹分析。 The non-denaturing PAGE revealed that the wild-type protein retained the capacity to form a multimeric quaternary structure, whereas in the mutations p.M173V, p.A226T, and p.G548Q, this structure grade was dramatically reduced and was completely absent in the rest of the mutations.