missense
- noun
- /ˈmɪsˌsɛns/
- Specialized
:
mutación de cambio de sentido
- Missense mutations p.S430I of NR5A1 and p.T7P of WT1 were identified in patient DSD0096, who presented with gonadal dysplasia and a relatively normal testosterone level.
- missense mutations
Examples
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The patient has a missense mutation that resulted in a significant change in the protein's structure.
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Researchers discovered a specific missense mutation that changes one amino acid, affecting the protein's function.
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It was therefore of interest to examine the cellular phenotype of the E424K missense mutant and compare it to that of the null mutant.
Academic text (2016) -
Recently, three individuals were reported to have one of two different heterozygous missense mutations in PLIN1, which altered the amino acids in the carboxy terminus of the protein.
Blog text (27) -
The genetic test revealed that she carried a missense variant, which substituted one amino acid with another in the enzyme.
Synonyms
2
4.2
A permanent change in a gene that parents can pass to children
1
6.0
A single change in DNA where one letter is changed, added, or lost
How Disruptive
- Specialized
- Specialized
- Specialized
3
6.7
- Specialized
1
6.0
- Specialized
- Specialized
Surface Forms
Morphology
Etymology
Missense comes from the parts mis- ('wrong'), the same mis- in mistake, and sense ('meaning'). So a missense mutation is a 'wrong meaning' in the DNA code that leads to a different amino acid in the protein.