"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 | 5 | 18 | 23 |
| 2014 | 10 | 8 | 18 |
| 2015 | 8 | 13 | 21 |
| 2016 | 14 | 22 | 36 |
| 2017 | 6 | 15 | 21 |
| 2018 | 7 | 16 | 23 |
| 2019 | 26 | 15 | 41 |
| 2020 | 17 | 21 | 38 |
| 2021 | 4 | 24 | 28 |
| 2022 | 0 | 10 | 10 |
| 2023 | 0 | 15 | 15 |
| 2024 | 5 | 12 | 17 |
| 2025 | 2 | 1 | 3 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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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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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.
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p53R172H and p53R245W Hotspot Mutations Drive Distinct Transcriptomes in Mouse Mammary Tumors Through a Convergent Transcriptional Mediator. Cancer Res Commun. 2024 08 01; 4(8):1991-2007.
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study. Br J Haematol. 2024 Aug; 205(2):686-698.