"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 | 7 | 11 | 18 |
| 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 | 17 | 43 |
| 2020 | 16 | 21 | 37 |
| 2021 | 4 | 24 | 28 |
| 2022 | 0 | 10 | 10 |
| 2023 | 0 | 15 | 15 |
| 2024 | 6 | 13 | 19 |
| 2025 | 2 | 3 | 5 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nat Commun. 2025 Feb 19; 16(1):1779.
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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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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 07; 148(1):227-237.
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Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy. Brain. 2025 Jan 07; 148(1):212-226.
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Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects. Nat Commun. 2025 Jan 02; 16(1):159.
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Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant. Am J Med Genet A. 2025 Apr; 197(4):e63943.
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The Glu86 Residue in TBX4 Proves Critical for Human Lung Development. Am J Med Genet A. 2025 Mar; 197(3):e63936.
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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Pervasive mislocalization of pathogenic coding variants underlying human disorders. Cell. 2024 Nov 14; 187(23):6725-6741.e13.
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Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha. Am J Med Genet A. 2025 Jan; 197(1):e63849.