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In all transcripts, the mutations are characterized as highly deleterious by SIFT and PolyPhen2.
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So, this mutation determined CNS-I and CNS-II phenotypes in homozygous and heterozygous conditions, respectively, as the highly deleterious deletion could effectively eliminate the UGT1A1 enzyme activity [ 16].
Excessive Fe uptake is highly deleterious, as it catalyzes the generation of reactive oxygen species.
Many of the ribosomal proteins listed as nonessential are still highly deleterious to lose.
Thus, mutations at silent sites in these three loci would seem to be either highly preferential or highly deleterious, as compared to the genome average.
Despite these reservations, our results prompt us to speculate that the short-term cost of highly deleterious recessive mutations can be as important as recombination in preventing mutator hitchhiking in sexual populations.
However, the current study demonstrates that in the 'wrong circumstances' saliva becomes highly deleterious, such as when it is exposed to CS.
Implementation of the Association-Adjusted Consensus Deleterious Scheme (AACDS) classifies 11% of all predicted highly deleterious homozygous variants as most likely to influence disease risk.
It has been suggested that genes undergo adaptive evolution, thus regions with potential for highly deleterious mutations such as genes, evolve lower mutation rates [ 39, 40].
In spite of these encouraging effects on survival, DCA treatment could not prevent the development of neurological symptoms associated with highly deleterious mutations such as the Thr411Ile in Pt4 and 5, suggesting that neurodegeneration can progress independently from the correction of the metabolic status if MTO1 function is severely impaired.
Further, differentiations within microvascular locations, as well as other abnormal pericyte responses to injury, are likely to be highly deleterious.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com