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Distribution of mutations was scattered due to the effect of EMS as a mutagen that causes a random mutation (Lawley and Martin 1975; Greene et al. 2003; Sikora et al. 2011; Tagu et al. 2014).
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First, we mapped the mutated residues on MxA molecule and found that these 22 mutations are scattered throughout all regions (Fig. 2b).
The reported Gs-alpha mutations are scattered throughout the entire coding region, with one mutational hotspot in exon 7 (c.565_568delGaccountingnting for 17.8% of cases.
As a result, Myriad's data on each of the mutations is scattered in millions of reports in the hands of doctors and patients.
The complexity of the molecular phenotypes as well as the fact that mutations are scattered throughout the protein has led to questions as to whether increase in channel activity ("gain-of-function" molecular phenotype) determines the disease outcome or whether a different dominant negative mechanism may be operational [1].
Complete genomic sequencing of 10 natural type 3/type 2 intertypic vaccine-related poliovirus capsid recombinants with the first crossover sites within the VP1 coding region (hereafter, VP1 capsid recombinants) showed that their genomes were collinear with that of the Sabin 3 strain and that several mutations were scattered throughout the genomes.
The mutations were scattered along the pncA gene and no highly conservative region could be identified.
Relative to nap mitochondrial genome, 40 point mutations were scattered in the 23 protein-coding genes.
Mutations were scattered between exon 3 and codon 1503 of exon 15, while no large genomic rearrangements were identified.
While the median overall intermutational distance (IMD) is 13 kb, it is apparent that rather than the mutations being scattered randomly over the genome, mutation distribution is bimodal.
These mutations are scattered throughout the receptor and the majority are homozygous or compound heterozygous missense mutations leading to substitution of a single amino acid by another.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com