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On the other hand, in the second slowest mode, protease mutations lead a fluctuation orientation difference particularly at residue 39 in the unprimed monomer together with the active site and dimerization interface residues, which is recovered by the coevolving mutation on the substrate (Fig. 3D F).
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Besides having a role in development, integrin mutations lead to a variety of other defects.
19 Not all mutations yield a stable protein and some mutations lead to a truncated protein not detected using IHC.
14 Truncation mutations: As mentioned earlier, the great majority of FAP-associated APC mutations lead to a truncated protein, mainly due to a frameshift or nonsense variant.
are often mutated in colorectal and pancreatic cancer, and these mutations lead to a constitutively active Ras-MAPK pathway [ 10].
These mutations lead to an increase in A β1 42 production.
Interestingly, clv1 null alleles show a weak phenotype whereas many clv1 missense mutations lead to a strong phenotype [56].
The modest stability of the wild type prevents a critical analysis of these interactions because even moderately destabilizing mutations lead to a very small folded state population.
SCN5A mutations lead to a wide spectrum of cardiovascular disorders.
Moreover, these exosome mutations lead to a substantial posttranscriptional increase in polyadenylated GAL1 3′ ends.
LMNA mutations lead to a wide spectrum of disorders now called laminopathies.
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