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DOI: http://dx.doi.org/10.7554/eLife.00631.025 10.7554/eLiFigure31.026 figure 6—figure supplement 7. M136I partially rescues the activity of the three individually deleterious mutations, and mostly rescues protein levels for V280A.
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Moreover, this type of tumor is characteristic of BRCA1 and BRCA2 mutation carriers and mostly arises from STICs [ 15, 17].
In general, and in agreement with the potentially deleterious nature of these mutations, these alleles were rare and mostly present in a single population; they are probably recent mutations that have not been purged yet.
Gene ontology analysis of the gene lists did not reveal obvious functional overlap among the genes with altered expression in both CbCln3Δex7/8/Δex7/8 and CbCln6nclf/nclf cells, suggesting the pathways most dramatically affected by the Cln3Δex7/8 and Cln6nclf mutations were mostly different (Tables S4 and S5).
The genetics of inherited hearing impairment is rather well understood; it is heterogeneous, typically monogenic and caused by rare, highly penetrant, and mostly disabling mutations (http://webh01.ua.ac.be/hhh/).
Moreover, this estimate of target size provides complementary information to population genetic approaches that aim to estimate the distribution of fitness effects of mutations from polymorphism and divergence and mostly learn about weaker selection coefficients (Eyre-Walker and Keightley 2007).
A number of methods have been developed to search for correlated mutations, and their results are mostly validated by comparing with distances between residues in crystal structures.
PIK3CA and GATA3 mutations are mostly found in tumors with low CNA (CN- Quiet and 1q/16q), and in particular GATA3 mutations are enriched for the 1q/16q subgroup (p GATA3 = 0.009).
BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively.
Considering the total population of patients analyzed here, however, BRCA1 and BRCA2 mutations were mostly found in cases with disease diagnosis before and after age 50 years, respectively.
Type 1 VHL mutations are mostly deletions and truncation mutations that drastically alter pVHL and phenotypically manifest in a low occurrence of pheochromocytoma and high frequency of renal cell carcinoma [ 28, 29].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com