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Nonetheless, our results from training and testing on HumVar mutations that map to structure considerably outperform other well-known individual methods including SIFT and PolyPhen2 as reported by González-Pérez and López-Bigas [ 18] (Accuracies between 0.690 and 0.771).
However, it is of interest that the tumour-associated mutations that map to helix αK12 enhance kinase activity and render PI3K insensitive to regulation by Ras, whereas preserving regulation by p85α (Ikenoue et al, 2005; Isakoff et al, 2005; Kang et al, 2005; Samuels et al, 2005; Zhao et al, 2005; Bader et al, 2006; Gymnopoulos et al, 2007; Zhao and Vogt, 2008).
Additional meta-data are shown from the 'Detailed' link, including information of somatic cancer mutations that map to known and candidate 14-3-3-binding 14-3-3-binding 14-3-3-binding 14-3-3-bindings aphosphositesata set of typinformationinants in HT experiments [fron in-house data, as reported in (1)], and links to data on gene-associated diseases.
Together, these studies reveal distinguishing structural features associated with increased basal activity of Notch3, demonstrate increased ligand-independent signaling for disease-associated mutations that map to the Notch3 NRR, and identify a conserved dimerization interface present in multiple Notch receptors.
Here we report the genetic behavior of three different A. thaliana mutations that map to the RPP5 locus R gene cluster in strain Columbia.
Instead of using the Gl,Sb pair, the direction of "splits" in the other three pairs reliably locate mutations that map between Gl and Sb (see Table S3).
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We report here c-CBL mutations that mapped not only to the RING finger domain, but also to the TKB domain, proline-rich domain and the C-terminal region, but none mapped to the linker region as reported in the AML studies described above [23], [24], [25], [26], [29].
For example, Kashuk and co-workers found those missense mutations that mapped to evolutionarily invariant positions in an alignment of RET proteins were more likely to be associated with the most severe clinical outcomes [ 45].
In stocks carrying a suppressor mutation that mapped very close to the RFP insertion at 85E (only 1-3% recombination frequency between suppressor mutation and RFP at 85E), and therefore also close to Df 3R Exel6149 at 85A, the Mkk4 gene was checked for point mutations by sequencing.
Map positions of mutations that were mapped in our project and cloned by other researchers are shown together with the ZMAP positions of the affected genes (publicly available from ZFIN [10]).
A sequence clone is uniquely associated with a subtree and is distinguished from its background by the mutations that are mapped onto the branch to its common ancestor.
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Justyna Jupowicz-Kozak
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