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We mapped the mutations on each branch of the tree.
Introduction of a double tagging and dual affinity chromatographic procedure has permitted the engineering and isolation of heterodimeric fatty acid synthases carrying different mutations on each subunit.
We next generated a LoNA mutant construct with two mutations on each of its box C/D regions (Mut), and a deletion mutant construct with both box C/D sequences removed (Del), as indicated in Fig. 4d.
The plot shows a stack of the possible amino acid mutations on each position in SLFNTVATL (x-axis).
Therefore, we examined the effects of the GOF mutations on each of these parameters.
Heterogeneity at the molecular level can also result from the type of mutations on each allele.
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Interestingly, residues Phe278 and Glu282 were found to involve in substrate recognition because mutation on each residue led to convert MgMDL2 to a triacylglycerol (TAG) lipase.
Sequencing revealed a different mutation on each allele: a single nucleotide insertion resulting in a frame shift and premature termination in the Jak3 JH4 domain and a nonsense mutation in the Jak3 JH2 domain.
As stated previously, we postulated that the synergistic interactions of the opus insertion with an additional mutation on each of the tub var chromosomes (except for tub ste) cause the distinct phenotypic profile of each allele.
Comparison of the effects of the R504Q mutation on each pair of ligands (i.e. IP3 vs. AdA, and IP2 vs. dephospho-AdA) indicates that for each there was a 25-fold greater decrease in the affinity for the AdA analogues.
The diagnosis of cystic fibrosis was based on clinical features and a positive sweat sodium (>70 mmol/L) or chloride (>60 mmol/L) result or, in cases with a borderline or negative sweat test result, the presence of a known disease causing mutation on each CFTR gene or of an abnormal nasal potential difference measurement.
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