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Basic Characteristics of Mutations
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Mutation Site
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94delH |
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Mutation Site Sentence
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Table 2, Table 3, Table 4 |
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Mutation Level
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Amino acid level |
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Mutation Type
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Deletion |
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Gene/Protein/Region
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EnhII |
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Standardized Encoding Gene
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Genotype/Subtype
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D |
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Viral Reference
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EU174320(Australia);AY934408(Russia);KT151610(India);AB486530(Japan);AF121239(Sweden);EU594415(Russia);AB194951(Cameroon);FJ692561(Haiti);AY934773(Tanzania);AY233287(SouthAfrica);AY233274(SouthAfrica);AF297625(SouthAfrica);AY934771(Somalia);EU366129(Argentina);DQ060822(Argentina);EU598595(Belgium);GQ161837(Guinea);AP007264(Japan);EU498282(Thailand)
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Functional Impact and Mechanisms
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Disease
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Hepatitis B Virus Infection
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Immune
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- |
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Target Gene
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-
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Clinical and Epidemiological Correlations
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Clinical Information
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Y |
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Treatment
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- |
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Location
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Pakistan |
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Literature Information
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PMID
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34982798
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Title
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Genetic diversity in enhancer II region of HBV genotype D and its association with advanced liver diseases
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Author
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Khan M,Khan S,Gondal MF,Bibi S,Khan BT,Majid A,Khattak A,Khabir MN,Anwar M,Gul A,Naseem M,Attaullah S
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Journal
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PloS one
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Journal Info
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2022 Jan 4;17(1):e0261721
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Abstract
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BACKGROUND: Hepatitis B Virus (HBV) is one of the most common human infectious agents, and the mutations in its genome may cause chronic hepatitis (CH), liver cirrhosis (LC), and hepatocellular carcinoma (HCC). This study was designed to characterize the enhancer-II (Enh-II) region of X gene in HBV positive patients to assess the association of such mutations with CH, LC, and HCC. METHODS: HBV positive samples (N = 200) with patients' demographic and clinical data were collected from different regions of Khyber Pakhtunkhwa (KP), Pakistan. The Enh-II region of the HBx gene was sequenced and zanalyzed for polymorphism associated with advanced liver disease. Univariate and logistic regression analyses were performed to evaluate potent mutations associated with a risk for LC and HCC. RESULTS: HBV Enh-II region sequences analysis revealed 25 different mutations. The highest frequency of mutations S101F (62.2%), A102V/R/G/I (56.25%), M103L/A (68.75%)were found in HCC, followed in LC and CH patients as 57.1%, 42.8%, 28.52% 16%, 15.2% and 18.4% respectively. H94 deletion in the alpha-box of the Enh-II region, associated with a high risk of HCC was found in half of the HCC patients. This deletion was present in 28.5% of LC and 6.5% of CH patients. Importantly, the high frequency of some notable mutations such as E109A/Y, A110S/K, Y111D/E, and F112L was first time reported in the entire study population. The frequencies of these mutations were high in HCC (43.75%, 37.5%, 50% and 43.75% respectively) as compared to LC (14.28%, 14.28%, 28.2% and 42.8%) and CH patients (12.8%, 15.2%, 16.8% and 16% respectively). CONCLUSION: Mutations associated with LC and HCC are prevalent in the Enh-II region in Pakistani HBV isolates. The mutations found are alarming in CH patients as these may progress to LC and HCC in a large number of patients.
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Sequence Data
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-
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