 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 |
|---|
| 2021 | 0 | 1 | 1 | | 2020 | 0 | 1 | 1 | | 2019 | 1 | 2 | 3 | | 2018 | 0 | 1 | 1 | | 2017 | 0 | 1 | 1 | | 2016 | 0 | 1 | 1 | | 2015 | 0 | 3 | 3 | | 2014 | 0 | 4 | 4 | | 2013 | 0 | 4 | 4 | | 2012 | 0 | 1 | 1 | | 2011 | 0 | 4 | 4 | | 2010 | 0 | 2 | 2 | | 2009 | 0 | 2 | 2 | | 2008 | 0 | 4 | 4 | | 2007 | 0 | 1 | 1 | | 2006 | 0 | 2 | 2 | | 2005 | 0 | 1 | 1 | | 2004 | 0 | 3 | 3 | | 2003 | 0 | 3 | 3 | | 2002 | 0 | 1 | 1 | | 2001 | 0 | 1 | 1 | | 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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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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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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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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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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