Missense mutation

{
  "id": "MLC-T-ONC-005407",
  "term": "Missense mutation",
  "field": "Oncology and biomedicine",
  "definitions": [
    "A change in the DNA sequence of a gene that results in one amino acid (protein building block) being replaced with an amino acid that is different from the usual one at that position in the gene. Some missense mutations have little or no effect on the function of the protein, while others may change the function of the protein. Also called missense variant.",
    "A genetic alteration in which a single base pair substitution alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense variants (or mutations) will alter the function of the protein. Also called missense variant."
  ],
  "synonyms": [
    "missense variant"
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/missense-mutation/"
}