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Literature DB >> 3467353

Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein.

P W Connelly, G F Maguire, T Hofmann, J A Little.

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.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1987 PMID： 3467353 PMCID： PMC304185 DOI： 10.1073/pnas.84.1.270

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

26 in total

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15 in total

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Journal: J Pharmacol Exp Ther Date: 2014-11-13 Impact factor: 4.030

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4. A nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiency.

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