point mutation
Single nucleotide substitution
A point mutation is a change to a single nucleotide in a DNA sequence—one base pair substituted, inserted, or deleted.
Such mutations can be silent, producing no change in the resulting protein, or consequential, altering protein function or causing disease: Sickle cell anemia results from a point mutation in the hemoglobin gene.
Genetic code subunit
- base pairTwo matched nucleotides bonded
- substitutionExchange of one for another
- adeninePurine nucleobase in DNA
- thymineDNA nitrogen base
cytosine · guanine · transition · codon · anticodon · DNA · RNA · deoxyribonucleic
Meaningless words or actions
- silentProducing no sound
- synonymousIdentical in meaning
- transitionChange from one state
- spontaneousArising without external cause
induced · somatic · germline · neutral · deleterious · beneficial · conservative · reversion
Inherited blood cell malformation
- cystic fibrosisGenetic disorder thickening mucus
- Tay-SachsInherited lysosomal storage disorder
- hemophiliaGenetic clotting impairment
- thalassemiaHereditary hemoglobin production defect
oncogene · tumor suppressor · carcinogenic · pathogenic · genetic disorder · BRCA · Huntington · progeria
Gene variant at one locus
- genotypeOrganism's complete allele set
- heterozygousHaving unlike gene variants
- homozygousHaving identical alleles
- dominantHaving superior influence
recessive · carrier · polymorphism · penetrance · expressivity · trait · Mendelian · hereditary
Protein's molecular subunit
- phenotypeObservable characteristics of organism
- proteinFolded amino chain
- polypeptideAmino acid polymer
- translationConverting between languages
transcription · splicing · exon · intron · gain of function · truncation
nucleotide
Genetic code subunit
- base pairTwo matched nucleotides bonded
- substitutionExchange of one for another
- adeninePurine nucleobase in DNA
thymine · cytosine · guanine · transition · codon · anticodon · DNA · RNA · deoxyribonucleic · purine
nonsense
Meaningless words or actions
- silentProducing no sound
- synonymousIdentical in meaning
- transitionChange from one state
spontaneous · induced · somatic · germline · neutral · deleterious · beneficial · conservative · reversion
sickle cell
Inherited blood cell malformation
- cystic fibrosisGenetic disorder thickening mucus
- Tay-SachsInherited lysosomal storage disorder
- hemophiliaGenetic clotting impairment
thalassemia · oncogene · tumor suppressor · carcinogenic · pathogenic · genetic disorder · BRCA · Huntington · progeria
allele
Gene variant at one locus
- genotypeOrganism's complete allele set
- heterozygousHaving unlike gene variants
- homozygousHaving identical alleles
dominant · recessive · carrier · polymorphism · penetrance · expressivity · trait · Mendelian · hereditary · de novo
amino acid
Protein's molecular subunit
- phenotypeObservable characteristics of organism
- proteinFolded amino chain
- polypeptideAmino acid polymer
translation · transcription · splicing · exon · intron · gain of function · truncation
point mutationdeletion
Removal of content
insertion · duplication · translocation · inversion · frameshift mutation
mutation, mutate, frameshift mutation, missense mutation, nonsense mutation, point, mutated, mutating, mutations