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It remains possible that BUB3 or FGFR2 hemizygosity alone contributes to osteosarcoma, or that one of the genes is cryptically inactivated by a higher-order modification or mutation outside the coding region.
However, mutation outside the runt domain can result in a hypomorphic phenotype with clinical variability that is different from the typical CCD.
These results, which document the selective mechanism underlying this example of a virus-antibody arms race, illustrate the functional significance of affinity maturation by mutation outside the complementarity determining region surface of the antibody molecule.
The escape mutation in the epitope had a replication fitness cost, and another escape mutation outside the epitope was later acquired, allowing reversion of the first escape mutation and restoration of viral replication fitness [18], [23].
Otherwise we placed the mutation outside the interval in the direction opposite from the second marker.
In contrast, a mutation outside the interface, R293E, had much less effect on these activities.
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For example, sequencing each mutational hotspot is laborious and detecting mutations outside the hotspots is not feasible.
We know of one mutation outside of the GAP domain that leads to the null phenotype: an inversion mutation that results in eight consecutive amino acid changes towards the C-terminus.
TMA1-23 and TMA3-49 showed complete loss of p53 staining; however, no mutation was observed in the regions sequenced, which may be the result of larger deletions or mutation outside of the hotspot panel.
Until recently, many mutations outside the coding regions of genes have been mostly invisible to us.
Moreover, MHCII mutations outside the P1 pocket and the HLA-DM interaction site increased HLA-DM susceptibility.
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