Suggestions(2)
Exact(4)
The majority of NS mutations was located on the first and second codon position.
This is in contrast to a previous study of a mother-child pair, in which none of the observed mutations was located in immunodominant epitopes [ 7].
Interestingly, a significant portion of the mutations was located in exon 1 (n=11, 32%) but there was no area of recurrent mutations in this exon (Table 2).
None of these mutations was located in the active site or near the substrate binding site, so the mechanism by which they confer an increase in activity is unclear.
Similar(56)
The mutations are located in both of these domains.
Most of these mutations are located in DEAD domain, suggesting importance of this domain.
However, more than half of reported disease-related mtDNA point mutations are located within the tRNA genes.
In addition, several required mutations were located outside the ligand binding pocket and yet exerted important action on ligand binding.
Amino acid sequence analysis indicated that the most of the mutations were located on the enzyme surface.
By mapping the Nav1.1-related mutations to the Nav1.7 structure model, we identified that most mutations are located in the VSDs and the pore domain (Fig. 5A).
All mutations are located on the surface of the protein and are highly conserved.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com