missense mutation
Wrong amino acid
A missense mutation is a change in DNA that causes one amino acid to be substituted for another in a protein.
The term contrasts with nonsense mutations, which stop protein production entirely.
Missense mutations may be harmless, beneficial, or disease-causing depending on how the substitution affects protein function: The missense mutation altered the enzyme's active site.
Protein's molecular subunit
- codonBase triplet encoding amino
- nucleotideGenetic code subunit
- base pairTwo matched nucleotides bonded
- substitutionExchange of one for another
protein structure · polypeptide · exon · reading frame · protein folding · active site
Causing disease
- sickle cellInherited blood cell malformation
- cystic fibrosisGenetic disorder thickening mucus
- muscular dystrophyGenetic muscle-wasting condition
- genetic disorderAbnormality in inherited code
syndrome · oncogene · tumor suppressor · gain of function · BRCA
Gene variant at one locus
- geneHereditary information unit
- chromosomeDNA strand carrying genes
- locusParticular position or place
- genotypeOrganism's complete allele set
phenotype · dominant · recessive · inheritance · monogenic · polygenic · penetrance · expressivity
Ability to cause illness
- bioinformaticsComputational analysis of genetic data
- sequencingDetermining element order
- genetic testingAnalysis for inherited disorders
amino acid
Protein's molecular subunit
- codonBase triplet encoding amino
- nucleotideGenetic code subunit
- base pairTwo matched nucleotides bonded
substitution · protein structure · polypeptide · exon · reading frame · protein folding · active site
pathogenic
Causing disease
- sickle cellInherited blood cell malformation
- cystic fibrosisGenetic disorder thickening mucus
- muscular dystrophyGenetic muscle-wasting condition
genetic disorder · syndrome · oncogene · tumor suppressor · gain of function · BRCA
allele
Gene variant at one locus
- geneHereditary information unit
- chromosomeDNA strand carrying genes
- locusParticular position or place
genotype · phenotype · dominant · recessive · inheritance · monogenic · polygenic · penetrance · expressivity · carrier
pathogenicity
Ability to cause illness
- bioinformaticsComputational analysis of genetic data
- sequencingDetermining element order
- genetic testingAnalysis for inherited disorders
- geneticsDNA, allele, genotype, genes, gene
- Genetic Variationsinsertion, inversion, translocation, deletion, allele
- Cell ErrorsDNA damage, frameshift, translocation, inversion, transcription error
- mutationsmutant, deletion, insertion, frameshift, substitution
- translationtranslator, literal translation, literary translation, free translation, French translation
missense mutationnonsense mutation
Alteration creating early termination signal
miss, sense, mutation, mutate, frameshift mutation, nonsense mutation, mutated, mutating, mutations