"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 | 1 | 0 | 1 |
| 1999 | 1 | 2 | 3 |
| 2000 | 2 | 3 | 5 |
| 2001 | 4 | 3 | 7 |
| 2002 | 1 | 1 | 2 |
| 2003 | 3 | 4 | 7 |
| 2004 | 5 | 5 | 10 |
| 2005 | 3 | 6 | 9 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 5 | 6 |
| 2008 | 2 | 4 | 6 |
| 2009 | 3 | 8 | 11 |
| 2010 | 4 | 8 | 12 |
| 2011 | 4 | 13 | 17 |
| 2012 | 2 | 9 | 11 |
| 2013 | 4 | 11 | 15 |
| 2014 | 4 | 9 | 13 |
| 2015 | 5 | 5 | 10 |
| 2016 | 8 | 2 | 10 |
| 2017 | 5 | 2 | 7 |
| 2018 | 7 | 9 | 16 |
| 2019 | 8 | 7 | 15 |
| 2020 | 6 | 8 | 14 |
| 2021 | 3 | 6 | 9 |
| 2022 | 0 | 1 | 1 |
| 2023 | 3 | 3 | 6 |
| 2024 | 1 | 4 | 5 |
| 2025 | 3 | 5 | 8 |
| 2026 | 1 | 2 | 3 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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An integrated, scaled approach to resolve TSC2 variants of uncertain significance. Nat Commun. 2026 Jul 09; 17(1).
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Glycerol-driven TNAP activation in thermogenesis and mineralization. Nature. 2026 Jun; 654(8117):198-208.
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SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum. Hum Mol Genet. 2026 Feb 23; 35(4).
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The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy. Hum Mutat. 2025; 2025:1785045.
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Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach. Am J Hum Genet. 2025 10 02; 112(10):2281-2294.
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A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 10 02; 112(10):2363-2380.
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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer. Genet Med. 2025 11; 27(11):101565.
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures. Am J Hum Genet. 2025 07 03; 112(7):1722-1732.
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Missense variants in FRS3 affect body mass index in populations of diverse ancestries. Nat Commun. 2025 Mar 25; 16(1):2694.
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Novel SMARCA4 Variant in an Infant With Atypical Teratoid Rhabdoid Tumor. J Pediatr Hematol Oncol. 2025 04 01; 47(3):148-152.