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Basic Characteristics of Mutations
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Mutation Site
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E64D |
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Mutation Site Sentence
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In T helper region, frequently occurring mutations were detected at positions cT12S 20/118 (17.9%), cE64D 11/118 (9.3%), cT67P/N 12/118 (10.1%), cS69G 8/118 (6.7%), and cM66I 7/118 (5.9%). |
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Mutation Level
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Amino acid level |
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Mutation Type
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Nonsynonymous substitution |
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Gene/Protein/Region
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C |
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Standardized Encoding Gene
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C
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Genotype/Subtype
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- |
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Viral Reference
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X72702;X02496;Z35716;M32138;DQ315780;AY945307;X01587;AB033556;D50519;D23680;M38636;AY233290;M57663.2;AF297621;AY934772;AY233274
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Functional Impact and Mechanisms
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Disease
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Hepatitis B, Chronic
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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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- |
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Literature Information
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PMID
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26201521
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Title
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Naturally occurring core immune-escape and carboxy-terminal mutations truncations in patients with e antigen negative chronic hepatitis B
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Author
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Chauhan R,Sarin SK,Kumar M,Bhattacharjee J
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Journal
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Hepatology international
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Journal Info
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2012 Oct;6(4):707-17
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Abstract
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Introduction: Hepatocellular injury is often progressive in patients with hepatitis B e antigen negative chronic hepatitis B (HBeAg -ve CHB). There is scant data on association of core mutations occurring in patients with HBeAg -ve CHB with severity of liver disease. Materials and methods: Hundred and eighteen patients with chronic infection who were HBeAg negative, anti-HBe, and HBV DNA positive were enrolled. Precore and core regions were amplified, sequenced, and analyzed for precore, T helper, cytotoxic T lymphocytes (CTLs), B-cell epitope, and core carboxy-terminal region mutations. Results: Majority of patients were infected with HBV genotype D: 96 (81%) [D1: 16, D2: 55 and D5: 25] followed by genotype A1: 15 (13%) and genotype C: 7 (6%) [C1: 5 and unidentified subgenotype C: 2]. Classical (A1896) as well as nonclassical precore region mutations were detected in 30 (25%) and in 9 (7.6%) patients, respectively. Core immune escape, core carboxy-terminal mutations and truncations were detected in 61 (52%), 11 (9.3%), and 14 (12%) patients, respectively. Three core immune escape mutations were significantly higher in patients with coexisting precore stop codon compared with patients without precore stop codon mutation, cT12S (43 vs. 8%, p < 0.001), cS21T (16 vs. 3.4%, p < 0.026), and cE77D (30 vs. 4.5%, p < 0.002). When frequency of core immune escape mutations was compared among CHB and decompensated patients, and cT12S: (27 vs. 10%, p < 0.05), cS21T (16 vs. 1.35%, p < 0.01), cT67P/N: (20 vs. 4%, p < 0.001), cE113D (11.37 vs. 1.35%, p < 0.05), and cP130T/Q (7 vs. 0%, p < 0.001) mutations were found to be significantly higher in decompensated patients. Conclusion: Core immune-escape mutations cT12S, cS21T, cT67P, cE113D, and cP130T/Q are significantly higher in decompensated liver disease patients and could influence the severity of liver disease in HBeAg -ve CHB patients.
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Sequence Data
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-
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