missense mutations
Computational analysis of adverse missense mutations of HLA-B27 protein
... The protein sequence and variants (single amino acid polymorphisms/missense mutations/point mutations) of HLA- B27 were obtained from the Swissprot database available at http://www.expasy.ch/sprot/. ...
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Effects of missense mutations in sortase A gene on enzyme activity in Streptococcus mutans
... of missense mutations were compared between the groups [15, ...17 missense mutation sites were found and remarkably, the prevalence of the point muta- tions T168G and G470A significantly differed ...
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Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
... of mutations in fibrinogen genes using DNA sequencing and molecular modeling of missense mutations in all three genes [Fibrinogen gene alpha (FGA), beta (FGB) and gamma (FGG)] in Pakistani ...
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MutaCYP: Classification of missense mutations in human cytochromes P450
... all missense mutations in CYPs have functional implications and result in a disease ...identified mutations is ...causing mutations among the realm of CYP variants as well as for prediction of ...
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Identification of novel missense mutations in a large number of recent SARS-CoV-2 genome sequences Hugh Y. Cai 1* , Kimberly K. Cai 2, Julang Li3
... defining mutations found on orf3a and orf8 respectively are regions associated with the expression of accessory ...7 Mutations in Orf3a in SARS-Cov-2 have been shown to also result in loss or change of ...
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JAGGED1 Missense Mutations in Disorders of the Liver and Heart
... JAG1 missense mutations revealed two types of effect on protein ...function. Mutations found in patients with ALGS caused the JAG1 mutant protein to be improperly post-translationally modified and ...
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Missense mutations in the TP53 DNA-binding domain predict outcomes in patients with advanced oral cavity squamous cell carcinoma
... DBD missense mutations can lead to a gain-of- function [10, 18], we categorized TP53 mutations into two distinct categories, ...DBD missense mutations versus ...
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Predicting the effect of missense mutations on protein function: analysis with Bayesian networks
... A missense mutation can have various phenotypic effects although we restrict ourselves here to the simplified task of predicting whether a missense muta- tion has an effect or no effect on protein ...
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Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them?
... of missense mutations submitted to the Human Genome Database as shown in Table ...a missense change in genes associated with predispositions to ...of missense changes identified in the APC ...
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Missense mutations in DYT-TOR1A dystonia
... In the article “Missense mutations in DYT-TOR1A dystonia” by Iqbal et al., 1 first published online June 6, 2019, the genotype under patient IV-1 in panel A of the figure should have read “M/-.” Additionally, ...
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Identification of missense mutations in genes related to cancer pathways in glioma
... addition, mutations in the mismatch repair gene (MMR) such as MSH6 mediate TMZ resistance ...and mutations in the MMR gene ...known mutations that have been detected in studies conducted in Western ...
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Interpreting missense mutations in Human TRIM5alpha by computational methods
... Comparative sequence analysis is a powerful tool for the analysis of nsSNPs in the human genome. A large variety of organisms selected for sequence analysis means fewer sequences will be needed to make inferences ...
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Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid specific enzyme
... synthase mutations has facilitated the detection of AIP ...exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP, which precluded translation of the ...
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Missense dopamine transporter mutations associate with adult parkinsonism and ADHD
... DAT missense mutations might determine the pathological out- ...DAT missense mutations and neurodegenerative parkinsonism in ...DAT mutations, thereby substanti- ating that DAT coding ...
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The Spectrum of ROBO3 Mutations in Horizontal Gaze Palsy with Progressive Scoliosis: An Update
... HGPPS-related mutations described to date, both pathogenic and uncertain ...significance. Mutations are listed in Table 1. HGPPS-related mutations occur in all ROBO 3 gene exons and exon-intron ...
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Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity
... pathogenic missense mutations of K10 usually occur within highly conserved regions of the α-helical rod domains and the non-helical HI domain [49, ...
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Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects
... novel missense mutations, therefore, may affect the stability of the TPM1 structure and stability within the ...that mutations causing Mendelian CHD often show incomplete penetrance and variable ...
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Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
... Mutations in SEPSECS are associated with PCCA (pro- gressive cerebello-cerebral atrophy). The SEPSECS enzyme (Figure 2C) is involved in the final step of the selenocysteine (Sec) synthesis [86,87]. Selenocysteine ...
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Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets
... In ETS- cancers, we confirmed a previously reported enrichment for rearrangements containing CHD1 (38,39) . A target of enriched rearrangements in the region chr1:149-158Mb is likely ETV3. In 5/9 cancers, ETV3 was ...
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Analysis Identifying Common and Distinct Sequences among Texas Clinical Strains of Mycoplasma genitalium
... silent mutations of six amino acid residues within the encoded region of the MgPa adhesin in numerous clinical ...addition, missense mutations of limited numbers of amino acids were ...several ...
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