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Importantly, in each case of human infertility caused by septin mutation, the mutation affected a residue predicted to contact bound nucleotide and either blocked GTP binding or hydrolysis, leading to the complete failure to assemble a filamentous septin ring called the annulus (Kuo et al. 2012).
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SLI affects 50% of the children of an affected parent, and it is caused by a mutation affecting a tiny piece of DNA on a gene on chromosome 7.
It is important to ask: what happens to brain circuitry when a mutation affecting a process such as cell migration or synaptogenesis is mutated?
The mutation affects a single unit in the 6,500 units of DNA that make up the gene.
The second mutation affects a proto-oncogene called BCL-2, which codes for a protein that blocks cell suicide.
A random mutation affecting a trait is more likely to detract from its functionality than to maintain or enhance it.
The newly identified mutation affects a gene called APP, which encodes a protein that gets broken down into pieces, including β amyloid.
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 mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T).
Amino acid sequence alignment shows that the osu1-2 mutaffectsffects a conserved amino acid N at 560 which is present within a highly conserved seven amino acid-containing motif, WVMNVVP.
The rs384285149 mutation is a missense mutation affecting a highly conserved domain of EIF5A2.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com