{"code":"C18133","name":"Missense Mutation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Protein Altering Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Missense Variant","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"Protein Altering Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"Substitution","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"missense mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000460164"},{"name":"Exon Non-Synonymous Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Exonic Non-Synonymous Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Missense Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Missense Mutation Abnormality","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Missense Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Mutation, Missense","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Non-Synonymous Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Substitution Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Missense Mutation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"A single base pair substitution that 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 mutations will alter the function of the protein.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Missense_Mutation"},{"code":"P366","type":"Legacy Concept Name","value":"Missense_Mutation_Abnormality"},{"code":"P375","type":"Maps_To","value":"Missense Variant"},{"code":"P375","type":"Maps_To","value":"Protein Altering Variant"},{"code":"P375","type":"Maps_To","value":"Substitution"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0599155"}]}