 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 | 1 | 3 | | 2003 | 2 | 2 | 4 | | 2004 | 1 | 4 | 5 | | 2005 | 3 | 1 | 4 | | 2006 | 3 | 4 | 7 | | 2007 | 2 | 7 | 9 | | 2008 | 3 | 4 | 7 | | 2009 | 4 | 5 | 9 | | 2010 | 4 | 5 | 9 | | 2011 | 6 | 5 | 11 | | 2012 | 4 | 8 | 12 | | 2013 | 6 | 13 | 19 | | 2014 | 10 | 9 | 19 | | 2015 | 7 | 13 | 20 | | 2016 | 6 | 13 | 19 | | 2017 | 10 | 8 | 18 | | 2018 | 6 | 3 | 9 | | 2019 | 5 | 13 | 18 | | 2020 | 6 | 9 | 15 | | 2021 | 4 | 7 | 11 | | 2022 | 0 | 3 | 3 | | 2023 | 0 | 7 | 7 | | 2024 | 2 | 6 | 8 | | 2025 | 0 | 3 | 3 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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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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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, M?ller 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 ?, 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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Ardon M, Nguyen L, Chen R, Rogers J, Stout T, Thomasy S, Moshiri A. Onset and Progression of Disease in Nonhuman Primates With PDE6C Cone Disorder. Invest Ophthalmol Vis Sci. 2024 Dec 02; 65(14):16.
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Stokes EG, Kim H, Ko J, Aoto J. A Systematic Structure-Function Characterization of a Human Mutation in Neurexin-3a Reveals an Extracellular Modulatory Sequence That Stabilizes Neuroligin-1 Binding to Enhance the Postsynaptic Properties of Excitatory Synapses. J Neurosci. 2024 Oct 09; 44(41).
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Yousaf A, Yousaf S, Shabbir AS, Yousaf R, Riazuddin S, Shaikh RS, Santos-Cortez RLP, Ahmed ZM. Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Mol Genet Genomic Med. 2024 Sep; 12(9):e2478.
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Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Hoffman J, Tan H, Sandoval-Cooper C, de Villiers K, Reed SM. GTExome: Modeling commonly expressed missense mutations in the human genome. PLoS One. 2024; 19(5):e0303604.
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Buvoli M, Wilson GC, Buvoli A, Gugel JF, Hau A, B?nnemann CG, Paradas C, Ryba DM, Woulfe KC, Walker LA, Buvoli T, Ochala J, Leinwand LA. A Laing distal myopathy-associated proline substitution in the ?-myosin rod perturbs myosin cross-bridging activity. J Clin Invest. 2024 May 01; 134(9).
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Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. 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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