"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 | 2 | 3 |
| 2003 | 3 | 4 | 7 |
| 2004 | 5 | 4 | 9 |
| 2005 | 3 | 6 | 9 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 5 | 6 |
| 2008 | 2 | 3 | 5 |
| 2009 | 4 | 8 | 12 |
| 2010 | 4 | 8 | 12 |
| 2011 | 4 | 13 | 17 |
| 2012 | 1 | 8 | 9 |
| 2013 | 3 | 11 | 14 |
| 2014 | 4 | 8 | 12 |
| 2015 | 5 | 5 | 10 |
| 2016 | 8 | 2 | 10 |
| 2017 | 4 | 2 | 6 |
| 2018 | 4 | 8 | 12 |
| 2019 | 7 | 5 | 12 |
| 2020 | 4 | 7 | 11 |
| 2021 | 2 | 5 | 7 |
| 2022 | 0 | 1 | 1 |
| 2023 | 3 | 2 | 5 |
| 2024 | 0 | 2 | 2 |
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click here.
Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood. 2024 10 24; 144(17):1765-1780.
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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain. Am J Hum Genet. 2024 03 07; 111(3):584-593.
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Engineered mischarged transfer RNAs for correcting pathogenic missense mutations. Mol Ther. 2024 Feb 07; 32(2):352-371.
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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 08 01; 83(15):2557-2571.
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Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations. Brief Bioinform. 2023 07 20; 24(4).
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Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels. Neurobiol Dis. 2023 07; 183:106177.
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Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome. BMC Genomics. 2023 Feb 16; 24(1):75.
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. J Neurophysiol. 2022 07 01; 128(1):40-61.
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Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant. Biophys J. 2021 12 21; 120(24):5644-5656.
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Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death. Eur J Med Genet. 2021 Nov; 64(11):104322.