 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 | 1 | 3 | 4 | | 2002 | 2 | 1 | 3 | | 2003 | 2 | 2 | 4 | | 2004 | 1 | 4 | 5 | | 2005 | 2 | 1 | 3 | | 2006 | 2 | 4 | 6 | | 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 | 9 | 9 | 18 | | 2015 | 7 | 13 | 20 | | 2016 | 5 | 12 | 17 | | 2017 | 9 | 9 | 18 | | 2018 | 6 | 2 | 8 | | 2019 | 4 | 12 | 16 | | 2020 | 6 | 8 | 14 | | 2021 | 3 | 5 | 8 | | 2022 | 0 | 3 | 3 | | 2023 | 0 | 7 | 7 | | 2024 | 2 | 4 | 6 |
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Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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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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Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays. Elife. 2023 Dec 11; 12.
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Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ad?s L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 10 17; 32(21):3063-3077.
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Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM. 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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Myers SJ, Yuan H, Perszyk RE, Zhang J, Kim S, Nocilla KA, Allen JP, Bain JM, Lemke JR, Lal D, Benke TA, Traynelis SF. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Hum Mol Genet. 2023 09 16; 32(19):2857-2871.
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