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The impact of a mutation depends upon the type of cell involved.
Many approaches exist to predict the impact of a mutation.
This is because the impact of a mutation is not solely limited to its effect upon activity.
Epistasis occurs when the impact of a mutation on fitness depends on the genotype in which it occurs (Lehner 2011).
Thus the impact of a mutation in Per2 was selective for the synaptic potentiation evoked by the strong LTP protocol.
A color code similar to that of Figure 2B reflects the predicted functional impact of a mutation or their combinations.
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At this stage, the proposed instrument consisted of 56 items: demographics (4 items); perceived risk (8 items); life events and family history of the disease (8 items); perceived impact of carrying a mutation (9 items); family communication (6 items); disease-specific concerns (5 items); optimism (3 items); social support (3 items), premorbid functioning and previous psychiatric history (10 items).
In patients who are treated with insulin within 6 months of diagnosis, a lower post-test probability of >10% could be considered appropriate as the impact of finding a mutation is greater than for a non-insulin-treated patient, both financially, through saved treatment costs, and in terms of improved quality of life.
Bongo calculates the overall impact (I) of a mutation according to the 'key' residues affected by the mutation [32].
As there may be multiple mutations for one particular patient, it is essential to address the functional impact of a missense mutation in a model system.
A major advantage of Bongo is that it considers the long-distance structural impact of a point mutation.
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CEO of Professional Science Editing for Scientists @ prosciediting.com