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Some mutations do not change the amino acid sequence because multiple codons encode the same amino acid (synonymous mutations). Other mutations can be neutral if they lead to amino acid sequence changes, but the protein still functions similarly with the new amino acid (e.g. conservative mutations).
Epistasis is a phenomenon in genetics in which the effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes, respectively termed modifier genes. In other words, the effect of the mutation is dependent on the genetic background in which it appears. [2]
Deletion on a chromosome. In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
This is an uncommon occurrence that depends on the type of mutants being investigated. Two mutations, for example, could be synthetically dominant negative. Transvection is another instance, in which a heterozygous combination of two alleles with mutations in distinct sections of the gene complement one other to restore a wild-type phenotype. [7]
For example, a particular protein called "example" (symbol "EXAMP") may have 2 chains (subunits), which are encoded by 2 genes named "example alpha chain" and "example beta chain" (symbols EXAMPA and EXAMPB). Some genes encode multiple proteins, because post-translational modification (PTM) and alternative splicing provide several paths for ...
For example, hemochromatosis is the name given to several different heritable diseases with the same outcome, excess absorption of iron. These variants all reflect a failure in a metabolic pathway associated with iron metabolism, however mutations that cause hemochromatosis can occur at different gene loci. Mutations have occurred at each locus ...