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Basic Characteristics of Mutations
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Mutation Site
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F490L |
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Mutation Site Sentence
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Table 1. DNM occurrence frequencies for all recurrent DNMs in this analysis and the COG-UK dataset (n = 1,576,942). COG-UK dataset figures were generated using the dataset as it existed on 7 December 2021. Data was generated via CLIMB-Covid (Nicholls et al. 2021). The COG-UK dataset was used due to the quality of metadata available as a background dataset as well as programmatic access to variant information through existing CLIMB-COVID tools. |
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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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S |
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Standardized Encoding Gene
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S
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Genotype/Subtype
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- |
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Viral Reference
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NC_045512.2
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Functional Impact and Mechanisms
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Disease
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COVID-19
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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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- |
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Treatment
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- |
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Location
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UK |
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Literature Information
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PMID
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35996593
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Title
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Recurrent SARS-CoV-2 mutations in immunodeficient patients
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Author
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Wilkinson SAJ,Richter A,Casey A,Osman H,Mirza JD,Stockton J,Quick J,Ratcliffe L,Sparks N,Cumley N,Poplawski R,Nicholls SN,Kele B,Harris K,Peacock TP,Loman NJ
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Journal
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Virus evolution
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Journal Info
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2022 Aug 11;8(2):veac050
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Abstract
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Long-term severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in immunodeficient patients are an important source of variation for the virus but are understudied. Many case studies have been published which describe one or a small number of long-term infected individuals but no study has combined these sequences into a cohesive dataset. This work aims to rectify this and study the genomics of this patient group through a combination of literature searches as well as identifying new case series directly from the COVID-19 Genomics UK (COG-UK) dataset. The spike gene receptor-binding domain and N-terminal domain (NTD) were identified as mutation hotspots. Numerous mutations associated with variants of concern were observed to emerge recurrently. Additionally a mutation in the envelope gene, T30I was determined to be the second most frequent recurrently occurring mutation arising in persistent infections. A high proportion of recurrent mutations in immunodeficient individuals are associated with ACE2 affinity, immune escape, or viral packaging optimisation. There is an apparent selective pressure for mutations that aid cell-cell transmission within the host or persistence which are often different from mutations that aid inter-host transmission, although the fact that multiple recurrent de novo mutations are considered defining for variants of concern strongly indicates that this potential source of novel variants should not be discounted.
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Sequence Data
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-
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