"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
| 1999 | 5 | 1 | 6 |
| 2000 | 2 | 4 | 6 |
| 2001 | 7 | 6 | 13 |
| 2002 | 1 | 6 | 7 |
| 2003 | 7 | 5 | 12 |
| 2004 | 4 | 7 | 11 |
| 2005 | 4 | 5 | 9 |
| 2006 | 7 | 6 | 13 |
| 2007 | 8 | 6 | 14 |
| 2008 | 7 | 9 | 16 |
| 2009 | 9 | 7 | 16 |
| 2010 | 5 | 7 | 12 |
| 2011 | 5 | 9 | 14 |
| 2012 | 4 | 9 | 13 |
| 2013 | 6 | 17 | 23 |
| 2014 | 8 | 7 | 15 |
| 2015 | 10 | 13 | 23 |
| 2016 | 17 | 23 | 40 |
| 2017 | 7 | 14 | 21 |
| 2018 | 9 | 18 | 27 |
| 2019 | 25 | 17 | 42 |
| 2020 | 15 | 18 | 33 |
| 2021 | 5 | 23 | 28 |
| 2022 | 0 | 11 | 11 |
| 2023 | 1 | 14 | 15 |
| 2024 | 8 | 14 | 22 |
| 2025 | 5 | 19 | 24 |
| 2026 | 1 | 9 | 10 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila. PLoS Genet. 2026 Oct; 22(10):e1012341.
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A rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies. Am J Hum Genet. 2026 Oct 01; 113(10):2178-2194.
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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome. Am J Hum Genet. 2026 Sep 03; 113(9):1946-1971.
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An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants. Eur J Hum Genet. 2026 Nov; 34(11):1654-1662.
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Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies. J Gen Physiol. 2026 Sep 07; 158(5).
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Further characterization of the BRSK2-associated neurodevelopmental disorder. Eur J Hum Genet. 2026 Nov; 34(11):1644-1653.
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Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families. HGG Adv. 2026 Oct 08; 7(4):100654.
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New genotype-phenotype correlations and management recommendations for individuals with RERE variants. Genet Med. 2026 06; 28(6):102580.
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Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension. J Med Genet. 2026 Mar 20; 63(4):225-234.
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WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes. Clin Genet. 2026 07; 110(1):29-35.