Exact(47)
- A homozygous mutation, i.e. with 2 mutated alleles at the same locus, has the same fitness effect as 2 heterozygous loci bearing a mutated allele.
This can be concluded from two lines of investigation to characterize the mutation (i) APP processing and (ii) properties of the mutated peptide, that is toxicity, aggregation and stability.
Specifically, P i is completely determined by two random events: (i) the stage in which mutation i occurred and (ii) which copy in existence during that stage was mutated.
This key mutation (i) removed a charged side chain that forms a buried salt bridge in the disulfide-containing wild-type protein, (ii) optimized the local packing with the residues that replace the C46 C53 disulfide and (iii) improved the domain interactions.
Sequencing of the representative samples revealed an additional synonymous mutation, i.e., g.291C>A.
The PLE-1 variants with one mutation i.e. PLE-1-F407L PLE-1-F407L PLE-1-F407Ld the randmic PLE-1-F407 PLE-1-F407 PLE-1-F407r wIth E value >100.
Similar(13)
CSA evolves the population of conformations through genetic operators (mutations, i.e. perturbations of selected geometric parameters, and crossovers, i.e. exchange of selected subsets of geometric parameters between conformations) to a final population optimizing their conformational energy.
Patients with long QT syndrome (LQTS) who harbor multiple mutations (i.e. ≥ 2 mutations in ≥ 1 LQTS-susceptibility gene) may experience increased risk for life-threatening cardiac events.
Our discussion has focused exclusively on deleterious mutations, i.e. ones which reduce the fitness of their host organism.
e., are more canalized) than populations carrying a large mutation, implying that a mutation changes (decanalizes) the effect of other mutations, i.e., exposes otherwise small or cryptic genetic variation (Waddington 1942).
We searched the TGFBR2 gene for mutations in eight patients with spontaneous spinal CSF leaks who also had other features associated with TGFBR2 mutations, i.e., skeletal features of Marfan syndrome, arterial tortuosity, and or) thoracic aortic aneurysm.
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