无功能的人载脂蛋白C-II多伦多的结构
Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein.
作者信息
Connelly P W, Maguire G F, Hofmann T, Little J A
出版信息
Proc Natl Acad Sci U S A. 1987 Jan;84(1):270-3. doi: 10.1073/pnas.84.1.270.
Abstract
We previously reported a family with apolipoprotein C-II (apoC-II) deficiency characterized by the presence of a mutant apoC-II, apoC-IIToronto. We now report the purification and primary structure of apoC-IIToronto. The sequence of apoC-IIToronto is identical to that of normal apoC-II from residues 1-68. It differs from residue 69, where Asp69-Gln70-Val71-Leu72-Ser73-Val74- Leu75-Lys76-Gly77-Glu78-Glu79 is replaced by Thr69-Lys70-Phe71-Phe72-Leu73-Cys74. This is consistent with the deletion of a nucleotide in the codon for either Thr68 or Asp69 and a translation reading frame shift.
摘要
我们之前报道过一个载脂蛋白C-II（apoC-II）缺乏的家族，其特征是存在一种突变型apoC-II，即apoC-II多伦多型。现在我们报道apoC-II多伦多型的纯化及一级结构。apoC-II多伦多型从第1至68位残基的序列与正常apoC-II相同。它从第69位残基开始不同，正常的Asp69-Gln70-Val71-Leu72-Ser73-Val74-Leu75-Lys76-Gly77-Glu78-Glu79被Thr69-Lys70-Phe71-Phe72-Leu73-Cys74取代。这与Thr68或Asp69密码子中的一个核苷酸缺失以及翻译阅读框移位是一致的。
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