Mutation Information
Mutation Site
|
S53N |
Mutation Type
|
Amino acid level |
Gene/Protein/Region Type
|
Vpu |
Country
|
USA |
Literature Information
PubMed PMID
|
24465210
|
Disease
|
HIV infection/AIDS
|
Published Year
|
2014 |
Journal
|
PLoS pathogens |
Title
|
Preservation of tetherin and CD4 counter-activities in circulating Vpu alleles despite extensive sequence variation within HIV-1 infected individuals. |
Author
|
Pickering S,Hué S,Kim EY,Reddy S,Wolinsky SM,Neil SJ |
Evidence
|
Proteins defective for both CD4 downregulation and tetherin counteraction (i.e. less than the 81% cutoff for tetherin and 73.7% for CD4) contained a frame-shift (n = 1), an A19E change in the transmembrane domain (n = 1), mutations of the highly conserved regions just prior to (E29K;n = 2) and within (II43,46SL, R49G, R49T;n = 3) the first alpha-helix, and in the DSGNES hinge region between the two cytoplasmic alpha helices (D52V, SN53,55RH, S53N, E58K;n = 4), which contains two phosphorylated serines essential for interactions with the E3 ubiquitin ligase complex SCFbeta-TrCP, central to Vpu's function.
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