HPV Mutation Detail Information

Virus Mutation HPV Mutation L294M


Basic Characteristics of Mutations
Mutation Site L294M
Mutation Site Sentence The de novo assembled HPV16 genomes from clinical specimens revealed aa polymorphisms of the E1 protein in its DNA-binding domain at aa positions 294 and 326: a replacement of leucine (prototype) at position 294 with methionine (L294M) in 2 LSIL specimens (#3 and #4) and that of isoleucine (prototype) at position 326 with methionine (I326M) in all the specimens (Figure 5A).
Mutation Level Amino acid level
Mutation Type Nonsynonymous substitution
Gene/Protein/Region E1
Standardized Encoding Gene E1
Genotype/Subtype HPV16
Viral Reference K02718
Functional Impact and Mechanisms
Disease Squamous Intraepithelial Lesions     Uterine Cervical Neoplasms    
Immune -
Target Gene -
Clinical and Epidemiological Correlations
Clinical Information -
Treatment -
Location Japan
Literature Information
PMID 24236186
Title Genetic variation of human papillomavirus type 16 in individual clinical specimens revealed by deep sequencing
Author Kukimoto I,Maehama T,Sekizuka T,Ogasawara Y,Kondo K,Kusumoto-Matsuo R,Mori S,Ishii Y,Takeuchi T,Yamaji T,Takeuchi F,Hanada K,Kuroda M
Journal PloS one
Journal Info 2013 Nov 13;8(11):e80583
Abstract Viral genetic diversity within infected cells or tissues, called viral quasispecies, has been mostly studied for RNA viruses, but has also been described among DNA viruses, including human papillomavirus type 16 (HPV16) present in cervical precancerous lesions. However, the extent of HPV genetic variation in cervical specimens, and its involvement in HPV-induced carcinogenesis, remains unclear. Here, we employ deep sequencing to comprehensively analyze genetic variation in the HPV16 genome isolated from individual clinical specimens. Through overlapping full-circle PCR, approximately 8-kb DNA fragments covering the whole HPV16 genome were amplified from HPV16-positive cervical exfoliated cells collected from patients with either low-grade squamous intraepithelial lesion (LSIL) or invasive cervical cancer (ICC). Deep sequencing of the amplified HPV16 DNA enabled de novo assembly of the full-length HPV16 genome sequence for each of 7 specimens (5 LSIL and 2 ICC samples). Subsequent alignment of read sequences to the assembled HPV16 sequence revealed that 2 LSILs and 1 ICC contained nucleotide variations within E6, E1 and the non-coding region between E5 and L2 with mutation frequencies of 0.60% to 5.42%. In transient replication assays, a novel E1 mutant found in ICC, E1 Q381E, showed reduced ability to support HPV16 origin-dependent replication. In addition, partially deleted E2 genes were detected in 1 LSIL sample in a mixed state with the intact E2 gene. Thus, the methods used in this study provide a fundamental framework for investigating the influence of HPV somatic genetic variation on cervical carcinogenesis.
Sequence Data "AB818687 to AB818693 for HPV16, AB819272 to AB819274 for HPV52, and AB819275 to AB819279 for HPV58"
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.