"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 | 7 | 8 |
| 2003 | 8 | 5 | 13 |
| 2004 | 4 | 7 | 11 |
| 2005 | 3 | 5 | 8 |
| 2006 | 7 | 6 | 13 |
| 2007 | 8 | 7 | 15 |
| 2008 | 8 | 12 | 20 |
| 2009 | 8 | 6 | 14 |
| 2010 | 6 | 7 | 13 |
| 2011 | 5 | 10 | 15 |
| 2012 | 4 | 10 | 14 |
| 2013 | 6 | 17 | 23 |
| 2014 | 10 | 7 | 17 |
| 2015 | 9 | 13 | 22 |
| 2016 | 16 | 26 | 42 |
| 2017 | 7 | 15 | 22 |
| 2018 | 9 | 18 | 27 |
| 2019 | 27 | 17 | 44 |
| 2020 | 15 | 23 | 38 |
| 2021 | 5 | 25 | 30 |
| 2022 | 0 | 11 | 11 |
| 2023 | 0 | 15 | 15 |
| 2024 | 8 | 14 | 22 |
| 2025 | 5 | 15 | 20 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function. Elife. 2025 Aug 27; 13.
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 01; 148(8):2658-2670.
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De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome. Epilepsia. 2025 Sep; 66(9):e211-e218.
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Generation of human induced pluripotent stem cell line from a familial Alzheimer's disease patient carrying missense mutations in PSEN1 and MAPT genes. Stem Cell Res. 2025 Sep; 87:103759.
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures. Am J Hum Genet. 2025 Jul 03; 112(7):1722-1732.
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A novel cardiomyopathy phenotype linked to a CHD7 missense variant. Sci Rep. 2025 Jun 03; 15(1):19429.
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999.
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Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18). Hum Mutat. 2025; 2025:3531508.
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The contribution of de novo coding mutations to meningomyelocele. Nature. 2025 May; 641(8062):419-426.
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Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies. HGG Adv. 2025 Jul 10; 6(3):100426.