MISSENSE MUTATIONS Meaning and
Definition
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Missense mutations are genetic alterations that occur at the DNA level and result in a change of a single nucleotide within a gene sequence. Specifically, they involve the substitution of one nucleotide for another, causing a codon mutation within the coding region of a gene. This change leads to the replacement of one amino acid with another during the translation process, which can have significant consequences for protein functionality.
Unlike silent mutations that do not change the amino acid sequence, missense mutations result in an alteration of the encoded protein's structure and, consequently, its function. The impact of a missense mutation on the protein's function can vary depending on the specific amino acid substitution, its location within the protein's structure, and the protein's role within the cell.
Sometimes, missense mutations may lead to the production of a protein with altered function or activity, potentially leading to abnormal cell behavior or disease development. In other cases, these mutations may have minimal effects, or even possess beneficial properties, such as conferring resistance to certain diseases or toxins.
Understanding and characterizing missense mutations is essential in various fields, including medical genetics and personalized medicine, as they can influence an individual's susceptibility to certain diseases or affect the efficacy of specific drugs targeting particular proteins. Therefore, extensive research is conducted to investigate the consequences of missense mutations and their implications for human health and disease.
Common Misspellings for MISSENSE MUTATIONS
- nissense mutations
- kissense mutations
- jissense mutations
- mussense mutations
- mjssense mutations
- mkssense mutations
- mossense mutations
- m9ssense mutations
- m8ssense mutations
- miasense mutations
- mizsense mutations
- mixsense mutations
- midsense mutations
- miesense mutations
- miwsense mutations
- misaense mutations
- miszense mutations
- misxense mutations
- misdense mutations
- miseense mutations
Etymology of MISSENSE MUTATIONS
The word "missense" is derived from combining the prefix "mis-" (meaning "wrong" or "incorrect") with the word "sense". In genetics, a mutation refers to any change in the DNA sequence of an organism. Thus, a "missense mutation" specifically refers to a type of genetic mutation where a single nucleotide change in the DNA sequence results in the codon, which codes for an amino acid during protein synthesis, being altered to code for a different amino acid. This ultimately can lead to the production of a structurally altered protein with potential functional consequences.
