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One silent mutation causes the dopamine receptor D2 gene to be less stable and degrade faster, underexpressing the gene. A silent mutation in the multidrug resistance gene 1 , which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation in a specific location to allow the peptide chain to bend into an ...
Nevertheless, the concept is still widely used in evolutionary genetics, e.g. to explain the persistence of deleterious alleles as in the case of spinal muscular atrophy, [5] [4] or, in theoretical models, mutation-selection balance can appear in a variety of ways and has even been applied to beneficial mutations (i.e. balance between selective ...
It is a measure of the "population mutation rate" (the product of the effective population size and the neutral mutation rate) from the observed nucleotide diversity of a population. θ = 4 N e μ {\displaystyle \theta =4N_{e}\mu } , [ 3 ] where N e {\displaystyle N_{e}} is the effective population size and μ {\displaystyle \mu } is the per ...
A nonsynonymous substitution is a nucleotide mutation that alters the amino acid sequence of a protein.Nonsynonymous substitutions differ from synonymous substitutions, which do not alter amino acid sequences and are (sometimes) silent mutations.
For example, silent mutations that do not change the corresponding amino acid sequence of a gene may change the frequency of guanine-cytosine base pairs . These base pairs have a higher thermal stability ( melting point ) than adenine - thymine , a property that might convey, among organisms living in high-temperature environments, a selective ...
This study showcases the intricacy of genetic architecture by providing an example of many different SNPs and mutations working together, each with a varying effect, to generate a given phenotype. Other studies regarding genetic architecture are many and varied, but most use similar types of analyses to provide specific information regarding ...
It is analogous to biological mutation. The classic example of a mutation operator of a binary coded genetic algorithm (GA) involves a probability that an arbitrary bit in a genetic sequence will be flipped from its original state. A common method of implementing the mutation operator involves generating a random variable for each bit in a ...
For example, for an amino acid sequence (there are 20 "standard" amino acids that make up proteins), one would find there are 209 parameters. However, when studying coding regions of the genome, it is more common to work with a codon substitution model (a codon is three bases and codes for one amino acid in a protein).
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