 Mutation, Missense
"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
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| MeSH Number(s) |
G05.365.590.650
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| Concept/Terms |
Mutation, Missense- Mutation, Missense
- Missense Mutation
- Missense Mutations
- Mutations, Missense
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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 |
|---|
| 1999 | 2 | 0 | 2 | | 2000 | 2 | 1 | 3 | | 2001 | 2 | 3 | 5 | | 2002 | 2 | 2 | 4 | | 2003 | 2 | 2 | 4 | | 2004 | 1 | 3 | 4 | | 2005 | 3 | 1 | 4 | | 2006 | 3 | 4 | 7 | | 2007 | 3 | 7 | 10 | | 2008 | 3 | 4 | 7 | | 2009 | 3 | 5 | 8 | | 2010 | 6 | 6 | 12 | | 2011 | 6 | 5 | 11 | | 2012 | 4 | 8 | 12 | | 2013 | 8 | 13 | 21 | | 2014 | 9 | 9 | 18 | | 2015 | 7 | 14 | 21 | | 2016 | 7 | 13 | 20 | | 2017 | 10 | 9 | 19 | | 2018 | 5 | 3 | 8 | | 2019 | 6 | 12 | 18 | | 2020 | 6 | 9 | 15 | | 2021 | 5 | 7 | 12 | | 2022 | 0 | 3 | 3 | | 2023 | 0 | 8 | 8 | | 2024 | 2 | 6 | 8 | | 2025 | 1 | 6 | 7 | | 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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Repp ML, McMahon B. Hemoglobin San Diego: A Case Report and Review of the Literature. Am J Case Rep. 2026 Apr 14; 27:e951364.
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Shirakawa KT, Parikh T, Machado LESF, Poimenidou G, Nguyen HT, Dell'Acqua ML, Kettenbach AN, Page R, Peti W. The clinical missense variant E282K in PPP3CA/calcineurin shifts substrate dephosphorylation by altering active site recruitment. Nat Commun. 2026 Feb 16; 17(1).
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Shao C, Indeglia A, Foster M, Casey K, Leung J, Modarai SR, Leu JI, Duong B, Mes-Masson AM, Sims-Mourtada J, Auslander N, Drapkin R, Bitler BG, Zhang N, Murphy ME. Mutant p53 binds and controls estrogen receptor activity to drive endocrine resistance in ovarian cancer. Genes Dev. 2026 02 02; 40(3-4):199-214.
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Yue J, LeSon CE, Rimland CA, Brodeur K, Weng R, Hsu EE, Lam MT, Meyer M, Okada S, Hsu ALD, Alhezam MA, Perron MM, Halyabar O, Dedeoglu F, Nigrovic PA, Shimamura A, Rowe RG, Cooper MA, Vogel TP, Gillispie-Taylor M, Peterson R, Lin C, Nowicki KD, Dollerschell K, Nakano TA, Labrosse R, Cochino AV, Ioan A, Mendonca LO, Barros SF, Kalil J, Perez-Rojas J, Diaz-Kuan A, Sobel ES, Moussa T, Lee SSM, Koh LW, Khan A, Sutnga S, Khubchandani R, Shoman W, El Chazli Y, Pinto B, Kavadichanda C, Abraham RS, Sun X, Zhou Q, Naidu G, Sharma A, Esperanzate C, Kastner DL, Aksentijevich I, Kelly SJ, Hershfield M, Tarrant TK, Lee PY. Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants. Arthritis Rheumatol. 2026 Mar; 78(3):734-742.
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Poff AJ, Moss ND, Silver DL. Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome. Dis Model Mech. 2025 11 01; 18(11).
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Kipp OL, Lewis KA, Hough LE, Whitten ST. Missense mutations in intrinsically disordered protein regions link pathogenicity and phase separation. J Biol Chem. 2025 11; 301(11):110773.
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Fielder SM, Friederich MW, Hock DH, Zhang JR, Valin LM, Rosenfeld JA, Booth KTA, Brown NJ, Rius R, Sharma T, Semcesen LN, Worley KC, Burrage LC, Treat K, Samson T, Govert S, DaCunha S, Yuan W, Chen J, Lesinski J, Hoang H, Morrison SA, Ladha FA, Van Hove RA, Michel CR, Reisdorph R, Tycksen E, Baldridge D, Silverman GA, Soler-Alfonso C, Conboy E, Vetrini F, Emrick L, Craigen WJ, Sykes SM, Stroud DA, Van Hove JLK, Schedl T, Pak SC. Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders. EMBO Mol Med. 2025 Oct; 17(10):2562-2585.
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Ibel A, Bhardwaj R, Yilmaz DE, Kong S, Wendlinger S, Cordero C, Papaioannou D, Papazian M, Schönauer R, Meng Q, Eckardt KU, Hassan F, Volpe I, Klämbt V, Halbritter J, Fedeles S, Krappitz M, Kaminski MM. In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease. Mol Ther. 2025 Nov 05; 33(11):5373-5382.
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Antonicka H, Weraarpachai W, Szigety KM, Kopajtich R, Gibson JB, Van Hove JLK, Friederich MW, Lopriore P, Neuhofer C, Van Hove RA, Cole MA, Reisdorph R, Peterson JT, Dempsey KJ, Ganetzky RD, Mancuso M, Prokisch H, Shoubridge EA. Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome. Am J Hum Genet. 2025 Jul 03; 112(7):1699-1710.
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Rong M, Marques PT, Ali QZ, Morcos R, Chandran I, Qaiser F, Møller RS, Bayat A, Rubboli G, Gardella E, Reuter MS, Sands TT, Scheffer IE, Schneider A, Poduri A, Wirrell E, Nabbout R, Sullivan J, Valente K, Auvin S, Knupp KG, Brunklaus A, Aledo-Serrano Á, Andrade DM. Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy. Epilepsia. 2025 Jun; 66(6):2046-2052.
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