"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 | 5 | 12 |
| 2002 | 1 | 6 | 7 |
| 2003 | 8 | 5 | 13 |
| 2004 | 4 | 6 | 10 |
| 2005 | 3 | 5 | 8 |
| 2006 | 7 | 6 | 13 |
| 2007 | 8 | 7 | 15 |
| 2008 | 8 | 12 | 20 |
| 2009 | 8 | 6 | 14 |
| 2010 | 5 | 6 | 11 |
| 2011 | 4 | 10 | 14 |
| 2012 | 4 | 10 | 14 |
| 2013 | 6 | 18 | 24 |
| 2014 | 10 | 7 | 17 |
| 2015 | 8 | 13 | 21 |
| 2016 | 14 | 22 | 36 |
| 2017 | 6 | 14 | 20 |
| 2018 | 7 | 16 | 23 |
| 2019 | 26 | 16 | 42 |
| 2020 | 16 | 21 | 37 |
| 2021 | 4 | 24 | 28 |
| 2022 | 0 | 10 | 10 |
| 2023 | 0 | 15 | 15 |
| 2024 | 7 | 12 | 19 |
| 2025 | 3 | 10 | 13 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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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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Diverse ancestral representation improves genetic intolerance metrics. Nat Commun. 2025 Mar 18; 16(1):2648.
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862.
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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Hum Genet. 2025 Mar; 144(2-3):295-308.
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Lasalocid A selectively induces the degradation of MYD88 in lymphomas harboring the MYD88 L265P mutation. Blood. 2025 Mar 06; 145(10):1047-1060.
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Hum Genet. 2025 Mar; 144(2-3):127-142.
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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies. J Med Genet. 2025 Jan 27; 62(2):126-137.