"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 | 10 | 14 |
| 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 | 19 | 34 |
| 2021 | 5 | 23 | 28 |
| 2022 | 0 | 11 | 11 |
| 2023 | 0 | 14 | 14 |
| 2024 | 8 | 14 | 22 |
| 2025 | 5 | 19 | 24 |
| 2026 | 1 | 8 | 9 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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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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New genotype-phenotype correlations and management recommendations for individuals with RERE variants. Genet Med. 2026 Jun; 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.
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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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Molecular dynamics of the pathogenic KCNQ2 variant G256W reveals mechanisms of channel dysfunction in epileptic encephalopathy. J Biomol Struct Dyn. 2026 Jun; 44(9):4666-4684.
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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.