HIV Mutation Detail Information

Virus Mutation HIV Mutation E94K


Basic Characteristics of Mutations
Mutation Site E94K
Mutation Site Sentence To confirm that E94 and/or N116 were determinants of impaired SERINC5 downregulation function by this primary Nef clone, we reverted these polymorphisms to the consensus residue (Figure 3G, right side). Consistent with results for NL4.3 Nef, reversion of E94K or N116H alone partially rescued SERINC5 downregulation activity (to 69% and 59%, respectively) (p < 0.05 for both);while reversion of both polymorphisms enhanced this activity further (to 89%) (p < 0.001).
Mutation Level Amino acid level
Mutation Type Nonsynonymous substitution
Gene/Protein/Region Nef
Standardized Encoding Gene Nef  
Genotype/Subtype HIV-1 B
Viral Reference K03455.1
Functional Impact and Mechanisms
Disease HIV Infections    
Immune -
Target Gene -
Clinical and Epidemiological Correlations
Clinical Information Y
Treatment -
Location Boston (USA)
Literature Information
PMID 31693887
Title Natural HIV-1 Nef Polymorphisms Impair SERINC5 Downregulation Activity
Author Jin SW,Alsahafi N,Kuang XT,Swann SA,Toyoda M,Gottlinger H,Walker BD,Ueno T,Finzi A,Brumme ZL,Brockman MA
Journal Cell reports
Journal Info 2019 Nov 5;29(6):1449-1457
Abstract HIV-1 Nef enhances virion infectivity by counteracting host restriction factor SERINC5; however, the impact of natural Nef polymorphisms on this function is largely unknown. We characterize SERINC5 downregulation activity of 91 primary HIV-1 subtype B nef alleles, including isolates from 45 elite controllers and 46 chronic progressors. Controller-derived Nef clones display lower ability to downregulate SERINC5 (median 80% activity) compared with progressor-derived clones (median 96% activity) (p = 0.0005). We identify 18 Nef polymorphisms associated with differential function, including two CTL escape mutations that contribute to lower SERINC5 downregulation: K94E, driven by HLA-B( *)08, and H116N, driven by the protective allele HLA-B( *)57. HIV-1 strains encoding Nef K94E and/or H116N display lower infectivity and replication capacity in the presence of SERINC5. Our results demonstrate that natural polymorphisms in HIV-1 Nef can impair its ability to internalize SERINC5, indicating that variation in this recently described function may contribute to differences in viral pathogenesis.
Sequence Data JX171199-JX171243;JX440926-JX440971
Mutation Information
Note
Basic Characteristics of Mutations
  • Mutation Site: The specific location in a gene or protein sequence where a change occurs.
  • Mutation Level: The level at which a mutation occurs, including the nucleotide or amino acid level.
  • Mutation Type: The nature of the mutation, such as missense mutation, nonsense mutation, synonymous mutation, etc.
  • Gene/Protein/Region: Refers to the specific region of the virus where the mutation occurs. Including viral genes, viral proteins, or a specific viral genome region. If the article does not specifically indicate the relationship between the mutation and its correspondence, the main
  • Gene/Protein/Region studied in the article is marked.
  • Genotype/Subtype: Refers to the viral genotype or subtype where the mutation occurs. If the article does not specifically indicate the relationship between the mutation and its correspondence, the main Genotype/Subtype studied in the article is marked.
  • Viral Reference: Refers to the standard virus strain used to compare and analyze viral sequences.
Functional Impact and Mechanisms
  • Disease: An abnormal physiological state with specific symptoms and signs caused by viral infection.
  • Immune: The article focuses on the study of mutations and immune.
  • Target Gene: Host genes that viral mutations may affect.
Clinical and Epidemiological Correlations
  • Clinical Information: The study is a clinical or epidemiological study and provides basic information about the population.
  • Treatment: The study mentioned a certain treatment method, such as drug resistance caused by mutations. If the study does not specifically indicate the relationship between mutations and their correspondence treatment, the main treatment studied in the article is marked.
  • Location: The source of the research data.
Literature Information
  • Sequence Data: The study provides the data accession number.