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We noted that effectively, some divergent AR-B specific mutations are localized in close proximity to functionally relevant residues and may thus impact, in a subtle manner, the function of the receptor.
Of particular importance to this study are the genes p53 and K- ras2 since a significant proportion of the mutations are localized to a relatively small number of mutational hotspots [ 13- 16].
Strikingly, these mutations are localized to peptide regions involved in interdomain and interprotomer interactions within the recombination complex.
Group selection is hard to explain by appeal to biological evolution, because genetic mutations are localized to individuals, and are thus unlikely to result in whole groups having different traits, but conformity allows for spread within a group, and thus overcomes this limitation of genes.
In the case of t-AML, the various point mutations are localized at the N-terminal, the DNA binding site [68].
Since these mutations are localized in the common region between p19 and p21, we also investigated the effect of these mutations on p19-RACK1 binding using yeast two-hybrid assays.
Similar(40)
Again, the majority of mutations were localized to exons 5-8, the mutational hot-spot for p53 found in most cancers.
These mutations were localized near the conserved histidine motifs, which were proposed for binding iron required for enzymatic activity.
Of note, the Y15A and K186Q mutations were localized predominantly in cytoplasm (data not shown) and exhibited a low level of expression compared with WT-IN (Figure S1).
Seven of these mutations were localized in the DBD, i.e. the adRP-linked p.G56R mutation and the ESCS-linked p.R76Q, p.R76W, p.G88W, p.R97H, p.R104Q and p.R104W mutations.
The hotspot of MEFV mutations is localized in exon 10, which encodes the B30.2/rfp/SPRY domain, and this single locus inheritance greatly facilitated our analysis of host genetics in comparison with other disorders with more complex genetics.
Related(20)
mutations are concentrated
mutations are discovered
mutations are translated
variants are localized
mutations are constrained
variations are localized
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mutations are confined
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mutations are identified
mutations are situated
mutant are localized
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mutations are associated
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mutations are spread
mutations are mapped
mutations are kept
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