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In both genes, a single missense mutation affecting an amino acid residue localized in the catalytic region of the protein accounted for >90% of reported events and were shown to change the substrate specificity of these enzymes.
Similarly, a deleterious mutation affecting an α-helix important in the interaction of two proteins was compensated by several different mutations in or in the vicinity of the same α-helix.
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It is important to ask: what happens to brain circuitry when a mutation affecting a process such as cell migration or synaptogenesis is mutated?
A random mutation affecting a trait is more likely to detract from its functionality than to maintain or enhance it.
A mutation affecting a deeply engrained part of development, for instance the patterning of the body axis in a mammal, will have many deleterious effects and cannot be selected.
The rs384285149 mutation is a missense mutation affecting a highly conserved domain of EIF5A2.
A third Rut-C30-specific mutation affecting a gene element is in the gene 121453 encoding a metallopeptidase.
They thus do not mimic sporadic tumours that arise from an initiating mutation affecting a single cell in an otherwise normal microenvironment.
We also analyzed the percentage of WASp+ B cells within a WAS patient with a revertant mutation affecting a common lymphoid progenitor.
Therefore, we tested whether a recessive mutation affecting a very small proportion of patients in a case control study can still be detected using HRRA.
The availability of a gene product can become altered by a mutation affecting a control signal for the expression of the particular gene.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com