"Mutation, Missense" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
| Descriptor ID |
D020125
|
| MeSH Number(s) |
G05.365.590.650
|
| Concept/Terms |
Mutation, Missense- Mutation, Missense
- Missense Mutation
- Missense Mutations
- Mutations, Missense
|
Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".
Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".
This graph shows the total number of publications written about "Mutation, Missense" by people in this website by year, and whether "Mutation, Missense" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2013 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 2 | 3 |
| 2023 | 0 | 1 | 1 |
| 2024 | 0 | 1 | 1 |
| 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 Nov; 27(11):101565.
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593.
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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571.
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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. Am J Hum Genet. 2021 12 02; 108(12):2248-2258.
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An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Hum Mutat. 2021 10; 42(10):1351-1361.
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance. Am J Hum Genet. 2021 03 04; 108(3):458-468.
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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions. PLoS One. 2020; 15(8):e0233673.
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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity. J Med Genet. 2020 Jan; 57(1):62-69.
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A Bayesian framework for efficient and accurate variant prediction. PLoS One. 2018; 13(9):e0203553.
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Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Hum Mutat. 2018 08; 39(8):1061-1069.