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Taken together, these mutations showed different effects on pyruvate kinase activity of PKM2.
These three mutations showed different effects on β-HCH degradation activity (Figure 5a and Table 1).
These mutations showed different phenotypes when overexpressed in C2C12 cells (data not shown).
In addition, patients negative for nDNA mutations showed different mtDNA backgrounds.
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This feature is of major clinical relevance as compound mutations show different resistance profiles compared to individual mutants [ 5].
The apparent discrepancy of identical mutations showing different multimerization abilities can be explained by the different origin of the proteins in our study and that of Korhonen et al. (29).
Modifier genes, most of which are unknown at this time, can result in patients with the same combination of mutations showing different symptoms, even within the same family, making it even more difficult to prognosticate.
Pathogenic mutations in mtDNA are found in at least one in 5,000 affected individuals [ 1] and appear to be very common in the general population (>1 in 200 live births) even though these mutations show different penetrance during the lifetime of the carriers.
It is interesting that the E. coli E259A and R288A mutations, which showed different ΔΔ Go values than in T. thermophilus, also showed different ΔΔ Go values when Phe-tRNAPhe and Tyr-tRNATyr were compared.
This was more evident in lymphonodal metastasis that resulted from wild type to mutational analysis, but showed different mutations following LCM analysis.
Only three mutations showed significantly different ΔΔ Go values in the two systems.
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