Although most mutations are predicted to result in a loss of function, it is possible that the mutation will result in the addition of a new and essential function. In these circumstances, the mutation results in the creation of a new allele with a new function. Any heterozygote with the latest and original wild-type alleles will express the new allele. This will classify the mutation as dominant genetically. This type of mutation is known as a gain-of-function mutation. This type of mutation can result in the formation of a new protein isoform. This novel isoform may serve an essential new function. Notably, GOF mutations produce proteins with new activities, which bring variety to the biological system.
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(2024). Dominant Mutations. In: Dictionary of Toxicology. Springer, Singapore. https://doi.org/10.1007/978-981-99-9283-6_770
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DOI: https://doi.org/10.1007/978-981-99-9283-6_770
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