| / English Dictionary |
POINT MUTATION
| Pronunciation (US): |  | (GB): | |
I. (noun)
Sense 1
Meaning:
(genetics) a mutation due to an intramolecular reorganization of a gene
Synonyms:
Classified under:
Hypernyms ("point mutation" is a kind of...):
chromosomal mutation; genetic mutation; mutation ((genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism)
Domain category:
genetic science; genetics (the branch of biology that studies heredity and variation in organisms)
Context examples:
A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
(Nonsense Mutation, NCI Thesaurus)
Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a pyrimidine base or vice versa.
(Multiple Transversion Abnormalities, NCI Thesaurus)
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
(Missense Mutation, NCI Thesaurus)
Point mutations at various locations in a DNA sequence from either a eukaryotic or prokaryotic organism that causes a base change which results in an amino acid change in the protein product.
(Multiple Nucleotide Abnormalities, NCI Thesaurus)
A point mutation involving the substitution of Adenosine (a purine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms.
(Guanosine to Adenosine Transition Abnormality, NCI Thesaurus)
Point mutations in the gene have been associated with ovarian serous carcinoma and medulloblastoma.
(HNRNPA2B1 wt Allele, NCI Thesaurus)
A point mutation involving the substitution of Guanosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms.
(Cytosine to Guanosine Transversion Abnormality, NCI Thesaurus)
A point mutation involving the substitution of Adenosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms.
(Cytosine to Adenosine Transversion Abnormality, NCI Thesaurus)
Both deletions and point mutations in the gene are associated with Desbuquois dysplasia.
(CANT1 wt Allele, NCI Thesaurus)
Point mutations in alpha-synuclein and the recently described functional duplication of alpha-synuclein lead to excessive intracellular accumulation and protofibril formation.
(Parkinson's Disease Pathway KEGG, NCI Thesaurus/KEGG)
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