"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 | 7 | 15 |
| 2008 | 7 | 10 | 17 |
| 2009 | 8 | 7 | 15 |
| 2010 | 5 | 7 | 12 |
| 2011 | 5 | 9 | 14 |
| 2012 | 4 | 10 | 14 |
| 2013 | 6 | 17 | 23 |
| 2014 | 10 | 7 | 17 |
| 2015 | 9 | 13 | 22 |
| 2016 | 17 | 24 | 41 |
| 2017 | 7 | 15 | 22 |
| 2018 | 9 | 18 | 27 |
| 2019 | 25 | 16 | 41 |
| 2020 | 15 | 20 | 35 |
| 2021 | 5 | 24 | 29 |
| 2022 | 0 | 11 | 11 |
| 2023 | 0 | 14 | 14 |
| 2024 | 8 | 14 | 22 |
| 2025 | 6 | 20 | 26 |
| 2026 | 1 | 3 | 4 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Kv4.2V404M Mutation Induces Epileptiform Activity and Multiple Behavioral Abnormalities in Heterozygous Knock-in Mice. J Neurosci. 2026 02 11; 46(6).
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Rare heterozygous missense variants in VSX2 are associated with retinal detachment. PLoS Genet. 2026 Feb; 22(2):e1012027.
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ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis. Circ Genom Precis Med. 2026 Feb; 19(1):e005169.
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders. Nat Commun. 2026 Jan 23; 17(1):1569.
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Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants. Arthritis Rheumatol. 2026 Mar; 78(3):734-742.
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Mutations in the ?-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes. Nat Commun. 2025 Nov 27; 16(1):10637.
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Exonic Variation in HLA-C, CFB, and TAP2 Associated With Increased Risk for Comorbid Crohn's Disease and Psoriasis. Int J Dermatol. 2026 Mar; 65(3):553-562.
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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. J Clin Invest. 2025 Nov 17; 135(22).
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LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clin Genet. 2026 Mar; 109(3):437-457.
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A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 Oct 02; 112(10):2363-2380.