"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 |
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1999 | 0 | 1 | 1 |
2001 | 2 | 0 | 2 |
2002 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2004 | 1 | 0 | 1 |
2005 | 0 | 2 | 2 |
2006 | 1 | 1 | 2 |
2008 | 1 | 1 | 2 |
2009 | 2 | 4 | 6 |
2010 | 2 | 2 | 4 |
2011 | 2 | 1 | 3 |
2012 | 1 | 5 | 6 |
2013 | 3 | 7 | 10 |
2014 | 2 | 2 | 4 |
2015 | 5 | 3 | 8 |
2016 | 4 | 8 | 12 |
2017 | 4 | 3 | 7 |
2018 | 1 | 2 | 3 |
2019 | 2 | 4 | 6 |
2020 | 2 | 4 | 6 |
2021 | 2 | 6 | 8 |
2022 | 0 | 2 | 2 |
2023 | 0 | 4 | 4 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Predicting the pathogenicity of missense variants using features derived from AlphaFold2. Bioinformatics. 2023 05 04; 39(5).
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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genet Med. 2023 Jul; 25(7):100838.
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FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family. Genes (Basel). 2023 03 15; 14(3).
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Eur J Hum Genet. 2023 04; 31(4):461-468.
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Med. 2022 05 18; 14(1):51.
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A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. Clin Exp Dermatol. 2022 Jul; 47(7):1424-1426.
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A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family. Am J Med Genet A. 2022 04; 188(4):1251-1258.
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. J Mol Med (Berl). 2021 12; 99(12):1755-1768.
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A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes (Basel). 2021 08 21; 12(8).
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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668.