"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 | 1 | 2 |
| 1999 | 0 | 1 | 1 |
| 2000 | 0 | 1 | 1 |
| 2001 | 1 | 1 | 2 |
| 2003 | 0 | 2 | 2 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 4 | 5 |
| 2006 | 2 | 0 | 2 |
| 2007 | 0 | 3 | 3 |
| 2008 | 2 | 2 | 4 |
| 2009 | 0 | 4 | 4 |
| 2010 | 2 | 3 | 5 |
| 2011 | 2 | 4 | 6 |
| 2012 | 1 | 2 | 3 |
| 2013 | 7 | 5 | 12 |
| 2014 | 2 | 4 | 6 |
| 2015 | 1 | 2 | 3 |
| 2016 | 7 | 3 | 10 |
| 2017 | 4 | 2 | 6 |
| 2018 | 2 | 1 | 3 |
| 2019 | 3 | 2 | 5 |
| 2020 | 0 | 2 | 2 |
| 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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MRGPRX2 Activation by Rocuronium: Insights from Studies with Human Skin Mast Cells and Missense Variants. Cells. 2021 01 15; 10(1).
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
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Mutations in penicillin-binding protein 2 from cephalosporin-resistant Neisseria gonorrhoeae hinder ceftriaxone acylation by restricting protein dynamics. J Biol Chem. 2020 05 22; 295(21):7529-7543.
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Uncoupling of p97 ATPase activity has a dominant negative effect on protein extraction. Sci Rep. 2019 07 17; 9(1):10329.
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A central core disease mutation in the Ca2+-binding site of skeletal muscle ryanodine receptor impairs single-channel regulation. Am J Physiol Cell Physiol. 2019 08 01; 317(2):C358-C365.
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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic Genet. 2019 04; 40(2):110-117.
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? J Hum Genet. 2019 Jun; 64(6):561-572.
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3-ketodihydrosphingosine reductase mutation induces steatosis and hepatic injury in zebrafish. Sci Rep. 2019 02 04; 9(1):1138.
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 12; 103(12):2008-2015.
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Predicting protein-DNA binding free energy change upon missense mutations using modified MM/PBSA approach: SAMPDI webserver. Bioinformatics. 2018 03 01; 34(5):779-786.