Amino Acid Substitution
"Amino Acid Substitution" 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.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Descriptor ID |
D019943
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MeSH Number(s) |
E05.393.420.601.035 G05.355.600.109
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Concept/Terms |
Amino Acid Substitution- Amino Acid Substitution
- Amino Acid Substitutions
- Substitution, Amino Acid
- Substitutions, Amino Acid
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Below are MeSH descriptors whose meaning is more general than "Amino Acid Substitution".
Below are MeSH descriptors whose meaning is more specific than "Amino Acid Substitution".
This graph shows the total number of publications written about "Amino Acid Substitution" by people in UAMS Profiles by year, and whether "Amino Acid Substitution" 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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2021 | 0 | 1 | 1 | 2020 | 0 | 2 | 2 | 2019 | 1 | 2 | 3 | 2018 | 0 | 2 | 2 | 2017 | 0 | 1 | 1 | 2016 | 0 | 2 | 2 | 2015 | 0 | 5 | 5 | 2014 | 0 | 6 | 6 | 2013 | 1 | 4 | 5 | 2012 | 0 | 1 | 1 | 2011 | 1 | 4 | 5 | 2010 | 0 | 3 | 3 | 2009 | 0 | 2 | 2 | 2008 | 0 | 5 | 5 | 2007 | 0 | 2 | 2 | 2006 | 0 | 3 | 3 | 2005 | 0 | 1 | 1 | 2004 | 0 | 4 | 4 | 2003 | 0 | 3 | 3 | 2002 | 0 | 2 | 2 | 2001 | 0 | 2 | 2 | 1999 | 0 | 4 | 4 |
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Below are the most recent publications written about "Amino Acid Substitution" by people in Profiles over the past ten years.
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Kopel J, Grooms A, Ganapathy V, Clothier J. Metformin, valproic acid, and starvation induce seizures in a patient with partial SLC13A5 deficiency: a case of pharmaco-synergistic heterozygosity. Psychiatr Genet. 2021 02 01; 31(1):32-35.
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Wu YY, Jia MN, Cai H, Qiu Y, Zhou DB, Li J, Cao XX. Detection of the MYD88L265P and CXCR4S338X mutations by cell-free DNA in Waldenstr?m macroglobulinemia. Ann Hematol. 2020 Aug; 99(8):1763-1769.
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Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity. J Clin Endocrinol Metab. 2020 01 01; 105(1).
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Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
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Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cort?s FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hern?ndez-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 2020 01; 41(1):299-315.
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Soldovieri MV, Ambrosino P, Mosca I, Miceli F, Franco C, Canzoniero LMT, Kline-Fath B, Cooper EC, Venkatesan C, Taglialatela M. Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features. Int J Mol Sci. 2019 Jul 10; 20(14).
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Levy ER, Yip WK, Super M, Ferdinands JM, Mistry AJ, Newhams MM, Zhang Y, Su HC, McLaughlin GE, Sapru A, Loftis LL, Weiss SL, Hall MW, Cvijanovich N, Schwarz A, Tarquinio KM, Mourani PM, Randolph AG. Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness. Front Immunol. 2019; 10:1005.
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Lynch JM, Li B, Katoli P, Xiang C, Leehy B, Rangaswamy N, Saenz-Vash V, Wang YK, Lei H, Nicholson TB, Meredith E, Rice DS, Prasanna G, Chen A. Binding of a glaucoma-associated myocilin variant to the aB-crystallin chaperone impedes protein clearance in trabecular meshwork cells. J Biol Chem. 2018 12 28; 293(52):20137-20156.
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Loo E, Khalili P, Beuhler K, Siddiqi I, Vasef MA. BRAF V600E Mutation Across Multiple Tumor Types: Correlation Between DNA-based Sequencing and Mutation-specific Immunohistochemistry. Appl Immunohistochem Mol Morphol. 2018 Nov/Dec; 26(10):709-713.
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Young SG, Kitchen A, Kayali G, Carrel M. Unlocking pandemic potential: prevalence and spatial patterns of key substitutions in avian influenza H5N1 in Egyptian isolates. BMC Infect Dis. 2018 07 06; 18(1):314.
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Nyamugenda E, Cox AB, Pierce JB, Banning RC, Huynh ML, May C, Marshall S, Turkal CE, Duina AA. Charged residues on the side of the nucleosome contribute to normal Spt16-gene interactions in budding yeast. Epigenetics. 2018; 13(1):1-7.
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Aung T, Ozaki M, Lee MC, Schl?tzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, J?rvel? I, Schlottmann P, Lerner SF, Lamari H, Nilg?n Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossb?ck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Sunaric Megevand G, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Dom?nguez FA, Gonz?lez-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, N?then MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, ?lvarez L, Garc?a M, Gonz?lez-Iglesias H, Rodr?guez-Calvo PP, Fern?ndez-Vega Cueto L, Oguz ?, Tamcelik N, Atalay E, Batu B, Aktas D, Kasim B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivel? T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017 07; 49(7):993-1004.
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Fil D, DeLoach A, Yadav S, Alkam D, MacNicol M, Singh A, Compadre CM, Goellner JJ, O'Brien CA, Fahmi T, Basnakian AG, Calingasan NY, Klessner JL, Beal FM, Peters OM, Metterville J, Brown RH, Ling KKY, Rigo F, Ozdinler PH, Kiaei M. Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease. Hum Mol Genet. 2017 02 15; 26(4):686-701.
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Raisingani M, Contreras MF, Prasad K, Pappas JG, Kluge ML, Shah B, David R. Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene. J Pediatr Endocrinol Metab. 2016 Jul 01; 29(7):867-71.
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Bagchi RA, Wang R, Jahan F, Wigle JT, Czubryt MP. Regulation of scleraxis transcriptional activity by serine phosphorylation. J Mol Cell Cardiol. 2016 Mar; 92:140-8.
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Abraham PE, Wang X, Ranjan P, Nookaew I, Zhang B, Tuskan GA, Hettich RL. Integrating mRNA and Protein Sequencing Enables the Detection and Quantitative Profiling of Natural Protein Sequence Variants of Populus trichocarpa. J Proteome Res. 2015 Dec 04; 14(12):5318-26.
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Saha S, Murali R, Pashov A, Kieber-Emmons T. The Potential Role of Solvation in Antibody Recognition of the Lewis Y Antigen. Monoclon Antib Immunodiagn Immunother. 2015 Oct; 34(5):295-302.
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Niziolek PJ, MacDonald BT, Kedlaya R, Zhang M, Bellido T, He X, Warman ML, Robling AG. High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo. J Bone Miner Res. 2015 Oct; 30(10):1822-30.
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Ritho J, Arold ST, Yeh ET. A Critical SUMO1 Modification of LKB1 Regulates AMPK Activity during Energy Stress. Cell Rep. 2015 Aug 04; 12(5):734-42.
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Kundumani-Sridharan V, Subramani J, Das KC. Thioredoxin Activates MKK4-NF?B Pathway in a Redox-dependent Manner to Control Manganese Superoxide Dismutase Gene Expression in Endothelial Cells. J Biol Chem. 2015 Jul 10; 290(28):17505-19.
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Roth RM, Hampel H, Arnold CA, Yearsley MM, Marsh WL, Frankel WL. A modified Lynch syndrome screening algorithm in colon cancer: BRAF immunohistochemistry is efficacious and cost beneficial. Am J Clin Pathol. 2015 Mar; 143(3):336-43.
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Johnson P, Mitchell V, McClure K, Kellems M, Marshall S, Allison MK, Lindley H, Nguyen HT, Tackett JE, Duina AA. A systematic mutational analysis of a histone H3 residue in budding yeast provides insights into chromatin dynamics. G3 (Bethesda). 2015 Feb 23; 5(5):741-9.
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Li G, Young KD. A new suite of tnaA mutants suggests that Escherichia coli tryptophanase is regulated by intracellular sequestration and by occlusion of its active site. BMC Microbiol. 2015 Feb 04; 15:14.
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