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For instance, negative interactions, such as synthetic lethal and sick pairs, are inferred when a double mutation exhibits a more severe phenotypic effect than expected [1], [39].
This novel mutation exhibits a phenotype with characteristics of both gain-of-function and loss-of-function mutations.
The program provides read counts for the different categories for all experimental and control samples as tab-delimited tables, along with the relevant p-values, indicating the statistical probability that the predicted mutation exhibits a normal expression pattern.
Although mutant PIK3CA has been reported to be sufficient to transform normal cells both in vitro [44], [45], [46] and in vivo [46], [47], PIK3CA mutation exhibits a relatively low frequency in ovarian cancer (4.8 12%) [28], [29], [30], [32] as compared to other cancer types.
The A30P variant does display lower helical propensity and disrupted membrane interactions; however, E46K partitions more easily to the bound state, while the A53T mutation exhibits a lower helix propensity combined with a membrane affinity comparable to that of the wild type (17, 19, 38).
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Bacterial mutation exhibits an inherent deletional bias (Andersson and Andersson 1999a, 2001; Mira et al. 2001), and this bias has two important consequences.
The proband carrying the deleterious MT1-I49N mutation exhibited a delayed sleep onset confirmed with actimetry.
Mice heterozygous for the Brachyury T mutation exhibit a variable short-tailed phenotype [58] while other mutations such as Brachyury T137 have a kinked or bent tail [59].
Moreover, subjects bearing the R225W mutation exhibit a ∼90% increase of skeletal muscle glycogen content and a ∼30% decrease in intramuscular triglyceride (IMTG).
The gain-of-function allele hopTum-l encodes a constitutively active form of the Hopscotch (Hop) Janus kinase (JAK) and larvae carrying this mutation exhibit a melanotic tumor phenotype including extensive lamellocyte differentiation [14].
It was shown that actively contracting cardiomyocytes expressing GFP-myosin (green fluorescent protein fused to an embryonic myosin heavy chain) carrying the R403Q mutation, exhibited a significant decrease in organization of the contractile cytoskeleton of embryonic chicken cardiomyocytes [36].
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