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Exact(33)
The mutation affects a single unit in the 6,500 units of DNA that make up the gene.
The mutation affects a receptor on the surface of immune cells by disabling where it attaches to a large glycan.
The second mutation affects a proto-oncogene called BCL-2, which codes for a protein that blocks cell suicide.
The newly identified mutation affects a gene called APP, which encodes a protein that gets broken down into pieces, including β amyloid.
The mutation affects a receptor for a signaling molecule called netrin that is involved in one of the best-studied pathways in developmental neuroscience, she says, but all of that work has been done in animals such as mice, worms, and fruit flies.
The mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T).
Similar(27)
It has indeed been shown that the 'Flemish' mutation affects an inhibitory domain in the APP sequence that modulates γ-secretase activity (Tian et al, 2010).
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.
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