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point mutation

point mutation

1 6.0
A single change in DNA where one letter is changed, added, or lost
  • noun
  • /pɔɪnt mjuˈteɪʃən/
  • Specialized
translation icon : mutación puntual
  • The mutant 3'UTR constructs were made by introducing four point mutations into the putative seed regions of COX-2.
  • a single point mutation

But you can imagine a thought experiment where you go in and at every base pair you make the three possible point mutations.

Examples

  • However, other types of developmental disorders, such as genetic syndromes arising from deletions or point mutations, are diagnosed in infancy and provide a fascinating opportunity to examine early learning abilities.

    Academic text (2018)
  • So sickle cell disease is a single gene mutation of the beta globin gene, a point mutation, A modification that causes this disease.

  • And, and so this, it turns out that this mouse actually has a point mutation in one of those calcium channels.

  • After sequencing, they discovered a nonsynonymous point mutation in the spoT gene.

    Blog text (26)
  • A single point mutation in a determinant altered binding by the antibody.

    Academic text (1994)
  • Two of these genes, topA and fis, had sustained point mutations.

    Blog text (26)
  • Here, we describe an application of this technique to evaluate different point mutations on the transcriptional activity of peroxisome proliferator-activated receptor.

    Blog text (6)
  • We used small hotspot genotyping or targeted sequencing panels for frequent point mutations and insertions/deletions only.

    Academic text (2018)
  • Researchers identified a point mutation in the gene responsible for color blindness, leading to further studies on its effects.

  • The study showed that a point mutation in the DNA sequence can significantly alter an organism's traits.

Synonyms

mutation
vspoint mutation
  • Specialized
85 5.6

A permanent change in DNA that can cause new traits

is the narrow case where only one nucleotide is altered, inserted, or deleted
genetic mutation
vspoint mutation
  • Specialized
13 4.2

A permanent change in a gene's DNA that can alter traits

is specifically a single nucleotide change, not any broad DNA alteration
gene mutation
vspoint mutation
  • Specialized
2 4.2

A permanent change in a gene that parents can pass to children

is a change of just one nucleotide rather than larger region changes

How Disruptive

frameshift
  • Specialized
9.6
to translocate
  • Specialized
9.9
deletion
  • Specialized
3 6.7
point mutation
  • Specialized
1 6.0
nonsynonymous
  • Specialized
9.3
missense
  • Specialized
9.8

Surface Forms

Morphology

point + mutation

The meaning 'a mutation at a specific position' is directly and compositionaly derived from 'point' (a specific position) + 'mutation' (a change in DNA), so a learner who knows both words can infer that it refers to a change at a single nucleotide. Although the term is technical, the structure is transparent and mirrored by equivalent constructions in other languages, making it understandable to B1 learners who know the constituents.

Etymology

Point mutation comes from the picture of a tiny point — a single spot — and mutation meaning a change in a gene. So, a point mutation is a change in just one 'letter' of the DNA code, which can alter how a gene works.