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Exact(5)
The contribution of the non-hydrophobic residues needs further analysis as it is unclear whether the effect observed from the double/triple non-hydrophobic-residue to alanine mutations is primarily due to an increase in overall hydrophobicity or to the loss of the specific polar side-chains.
We speculate that the differing average severity associated with these two mutations is primarily due to their contrasting abundance.
Often, the pathogenicity of rare mutations is primarily assessed through multiple reports of occurrence in diseased patients that are documented and routinely updated in mutation databases.
The end result of acquired mutations is primarily thought to be the formation of a stable activated form of the Kit homodimer due to mutations in exon 17 or, less commonly, a change in the 3-D conformation of the homodimer preventing imatinib binding and activity due to a mutation in exon 14 [87].
These studies raise questions as to whether familial AD driven by presenilin and APP mutations is primarily a result of aberrant Aβ expression, or if it is in fact a result of altered APP cleavage, and the resultant effects of altered APP cleavage on sAPPα, sAPPβ, Aβ, AICD, p3 and full-length APP.
Similar(55)
The mutations were primarily deletions, missing bits of code, that rendered proteins kaput.
In vitro and in vivo studies reveal that resistance mutations are primarily found within the region spanning amino acid 36 45 of gp41.
The hMre11 structure in conjunction with biochemical analyses reveals that many tumorigenic mutations are primarily associated with Nbs1 binding and partly with nuclease activities, providing a framework for understanding how mutations inactivate Mre11.
Pathogenic mutations are primarily found in the enzymatic domains of LRRK2, the GTPase and the kinase domain.
Many of these mutations are primarily responsible for adult-onset mitochondrial disorders [ 1].
Overall, the number of mutations is significantly lower in LCINS, and the point mutations are primarily G → A transitions.
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