"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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1998 | 0 | 2 | 2 |
1999 | 5 | 1 | 6 |
2000 | 3 | 8 | 11 |
2001 | 5 | 5 | 10 |
2002 | 3 | 8 | 11 |
2003 | 11 | 7 | 18 |
2004 | 8 | 8 | 16 |
2005 | 4 | 9 | 13 |
2006 | 12 | 7 | 19 |
2007 | 15 | 12 | 27 |
2008 | 9 | 15 | 24 |
2009 | 9 | 14 | 23 |
2010 | 9 | 9 | 18 |
2011 | 6 | 16 | 22 |
2012 | 8 | 16 | 24 |
2013 | 14 | 22 | 36 |
2014 | 14 | 18 | 32 |
2015 | 13 | 13 | 26 |
2016 | 16 | 23 | 39 |
2017 | 12 | 20 | 32 |
2018 | 10 | 22 | 32 |
2019 | 26 | 19 | 45 |
2020 | 17 | 25 | 42 |
2021 | 6 | 26 | 32 |
2022 | 0 | 9 | 9 |
2023 | 1 | 17 | 18 |
2024 | 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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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Cell Mol Life Sci. 2024 Mar 28; 81(1):153.
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De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 Apr 04; 111(4):742-760.
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Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders. Sci Adv. 2024 Feb 09; 10(6):eadj5661.
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 Mar 07; 111(3):487-508.
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Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 Dec 07; 110(12):2103-2111.
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803.
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CaMKK2 as an emerging treatment target for bipolar disorder. Mol Psychiatry. 2023 Nov; 28(11):4500-4511.
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Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.