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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Amino Acid Substitution

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Disease relevance of Amino Acid Substitution


Psychiatry related information on Amino Acid Substitution


High impact information on Amino Acid Substitution


Chemical compound and disease context of Amino Acid Substitution


Biological context of Amino Acid Substitution


Anatomical context of Amino Acid Substitution


Associations of Amino Acid Substitution with chemical compounds


Gene context of Amino Acid Substitution

  • This mutation (C749G) predicts a Pro250Arg amino acid substitution in the extracellular domain of the FGFR3 protein [35].
  • Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin [36].
  • These mutations give rise to truncated receptor protein and significant amino acid substitutions, and provide evidence that the M6P/IGF2R gene functions as a tumour suppressor in human liver carcinogenesis [37].
  • An analogous version of human TFIID, generated by introducing the same amino acid substitutions in the corresponding region of the protein, can support basal and GCN4-activated transcription in yeast cells from a TGTAAA-containing promoter [38].
  • Sequencing of candidate genes from the Char4 region identified a loss-of-function mutation (269T-->A, resulting in the amino acid substitution I90N) in the pyruvate kinase gene (Pklr) that underlies the malaria resistance in AcB55 and AcB61 [39].

Analytical, diagnostic and therapeutic context of Amino Acid Substitution


  1. A short-term clinical evaluation of L-697,661, a non-nucleoside inhibitor of HIV-1 reverse transcriptase. L-697,661 Working Group. Saag, M.S., Emini, E.A., Laskin, O.L., Douglas, J., Lapidus, W.I., Schleif, W.A., Whitley, R.J., Hildebrand, C., Byrnes, V.W., Kappes, J.C. N. Engl. J. Med. (1993) [Pubmed]
  2. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. Weiss, J., Axelrod, L., Whitcomb, R.W., Harris, P.E., Crowley, W.F., Jameson, J.L. N. Engl. J. Med. (1992) [Pubmed]
  3. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Shiels, A., Bassnett, S. Nat. Genet. (1996) [Pubmed]
  4. Resistance to beta-lactam antibiotics by re-modelling the active site of an E. coli penicillin-binding protein. Hedge, P.J., Spratt, B.G. Nature (1985) [Pubmed]
  5. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Kinzler, K.W., Nilbert, M.C., Vogelstein, B., Bryan, T.M., Levy, D.B., Smith, K.J., Preisinger, A.C., Hamilton, S.R., Hedge, P., Markham, A. Science (1991) [Pubmed]
  6. A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Murrell, J., Farlow, M., Ghetti, B., Benson, M.D. Science (1991) [Pubmed]
  7. VH-related idiotopes detected by site-directed mutagenesis. A study induced by the failure to find CD4 anti-idiotypic antibodies mimicking the cellular receptor of HIV. Weissenhorn, W., Chen, Y.H., Riethmüller, G., Rieber, E.P., Weiss, E.H. J. Immunol. (1992) [Pubmed]
  8. Three- and four-repeat tau regulate the dynamic instability of two distinct microtubule subpopulations in qualitatively different manners. Implications for neurodegeneration. Levy, S.F., Leboeuf, A.C., Massie, M.R., Jordan, M.A., Wilson, L., Feinstein, S.C. J. Biol. Chem. (2005) [Pubmed]
  9. Functional analysis of the Ala67Thr polymorphism in agouti related protein associated with anorexia nervosa and leanness. de Rijke, C.E., Jackson, P.J., Garner, K.M., van Rozen, R.J., Douglas, N.R., Kas, M.J., Millhauser, G.L., Adan, R.A. Biochem. Pharmacol. (2005) [Pubmed]
  10. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Seki, S., Kawaguchi, Y., Chiba, K., Mikami, Y., Kizawa, H., Oya, T., Mio, F., Mori, M., Miyamoto, Y., Masuda, I., Tsunoda, T., Kamata, M., Kubo, T., Toyama, Y., Kimura, T., Nakamura, Y., Ikegawa, S. Nat. Genet. (2005) [Pubmed]
  11. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Bruce, L.J., Robinson, H.C., Guizouarn, H., Borgese, F., Harrison, P., King, M.J., Goede, J.S., Coles, S.E., Gore, D.M., Lutz, H.U., Ficarella, R., Layton, D.M., Iolascon, A., Ellory, J.C., Stewart, G.W. Nat. Genet. (2005) [Pubmed]
  12. The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Lipkin, S.M., Rozek, L.S., Rennert, G., Yang, W., Chen, P.C., Hacia, J., Hunt, N., Shin, B., Fodor, S., Kokoris, M., Greenson, J.K., Fearon, E., Lynch, H., Collins, F., Gruber, S.B. Nat. Genet. (2004) [Pubmed]
  13. Heterozygous TGFBR2 mutations in Marfan syndrome. Mizuguchi, T., Collod-Beroud, G., Akiyama, T., Abifadel, M., Harada, N., Morisaki, T., Allard, D., Varret, M., Claustres, M., Morisaki, H., Ihara, M., Kinoshita, A., Yoshiura, K., Junien, C., Kajii, T., Jondeau, G., Ohta, T., Kishino, T., Furukawa, Y., Nakamura, Y., Niikawa, N., Boileau, C., Matsumoto, N. Nat. Genet. (2004) [Pubmed]
  14. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Windpassinger, C., Auer-Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J.A., Dierick, I., Verpoorten, N., Warner, T.T., Proukakis, C., Van den Bergh, P., Verellen, C., Van Maldergem, L., Merlini, L., De Jonghe, P., Timmerman, V., Crosby, A.H., Wagner, K. Nat. Genet. (2004) [Pubmed]
  15. G-proteins and hormonal signalling in human pituitary tumors: genetic mutations and functional alterations. Spada, A., Vallar, L., Faglia, G. Frontiers in neuroendocrinology. (1993) [Pubmed]
  16. Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. Levy, E., Lopez-Otin, C., Ghiso, J., Geltner, D., Frangione, B. J. Exp. Med. (1989) [Pubmed]
  17. Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. Ware, J., Russell, S.R., Marchese, P., Murata, M., Mazzucato, M., De Marco, L., Ruggeri, Z.M. J. Clin. Invest. (1993) [Pubmed]
  18. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. Wilcox, D.A., Paddock, C.M., Lyman, S., Gill, J.C., Newman, P.J. J. Clin. Invest. (1995) [Pubmed]
  19. Functional consequences of single amino acid substitutions in calmodulin-activated adenylate cyclase of Bordetella pertussis. Glaser, P., Munier, H., Gilles, A.M., Krin, E., Porumb, T., Bârzu, O., Sarfati, R., Pellecuer, C., Danchin, A. EMBO J. (1991) [Pubmed]
  20. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Vits, L., Van Camp, G., Coucke, P., Fransen, E., De Boulle, K., Reyniers, E., Korn, B., Poustka, A., Wilson, G., Schrander-Stumpel, C. Nat. Genet. (1994) [Pubmed]
  21. Single amino acid substitutions in one Ca2+ binding site of uvomorulin abolish the adhesive function. Ozawa, M., Engel, J., Kemler, R. Cell (1990) [Pubmed]
  22. A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2. El-Din El-Assal, S., Alonso-Blanco, C., Peeters, A.J., Raz, V., Koornneef, M. Nat. Genet. (2001) [Pubmed]
  23. Coexpression of a mutant beta-actin and the two normal beta- and gamma-cytoplasmic actins in a stably transformed human cell line. Vandekerckhove, J., Leavitt, J., Kakunaga, T., Weber, K. Cell (1980) [Pubmed]
  24. Mutant dynactin in motor neuron disease. Puls, I., Jonnakuty, C., LaMonte, B.H., Holzbaur, E.L., Tokito, M., Mann, E., Floeter, M.K., Bidus, K., Drayna, D., Oh, S.J., Brown, R.H., Ludlow, C.L., Fischbeck, K.H. Nat. Genet. (2003) [Pubmed]
  25. T-cell recognition of Ia molecules selectively altered by a single amino acid substitution. Brown, M.A., Glimcher, L.A., Nielsen, E.A., Paul, W.E., Germain, R.N. Science (1986) [Pubmed]
  26. A single amino acid substitution in the human histocompatibility leukocyte antigen DR3 beta chain selectively alters antigen presentation. Mellins, E., Arp, B., Ochs, B., Erlich, H., Pious, D. J. Exp. Med. (1988) [Pubmed]
  27. Sequences of complementary DNAs that encode the NA1 and NA2 forms of Fc receptor III on human neutrophils. Ory, P.A., Clark, M.R., Kwoh, E.E., Clarkson, S.B., Goldstein, I.M. J. Clin. Invest. (1989) [Pubmed]
  28. Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. Motley, A., Lumb, M.J., Oatey, P.B., Jennings, P.R., De Zoysa, P.A., Wanders, R.J., Tabak, H.F., Danpure, C.J. J. Cell Biol. (1995) [Pubmed]
  29. Genetically modified yolk proteins precipitate in the adult Drosophila fat body. Butterworth, F.M., Bownes, M., Burde, V.S. J. Cell Biol. (1991) [Pubmed]
  30. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Russell, L.J., DiGiovanna, J.J., Rogers, G.R., Steinert, P.M., Hashem, N., Compton, J.G., Bale, S.J. Nat. Genet. (1995) [Pubmed]
  31. Secretion of a lambda 2 immunoglobulin chain is prevented by a single amino acid substitution in its variable region. Wu, G.E., Hozumi, N., Murialdo, H. Cell (1983) [Pubmed]
  32. An adenovirus E1A protein domain activates transcription in vivo and in vitro in the absence of protein synthesis. Green, M., Loewenstein, P.M., Pusztai, R., Symington, J.S. Cell (1988) [Pubmed]
  33. T2Rs function as bitter taste receptors. Chandrashekar, J., Mueller, K.L., Hoon, M.A., Adler, E., Feng, L., Guo, W., Zuker, C.S., Ryba, N.J. Cell (2000) [Pubmed]
  34. Mechanisms of autoinhibition and STI-571/imatinib resistance revealed by mutagenesis of BCR-ABL. Azam, M., Latek, R.R., Daley, G.Q. Cell (2003) [Pubmed]
  35. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Bellus, G.A., Gaudenz, K., Zackai, E.H., Clarke, L.A., Szabo, J., Francomano, C.A., Muenke, M. Nat. Genet. (1996) [Pubmed]
  36. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Muckenthaler, M., Roy, C.N., Custodio, A.O., Miñana, B., deGraaf, J., Montross, L.K., Andrews, N.C., Hentze, M.W. Nat. Genet. (2003) [Pubmed]
  37. M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity. De Souza, A.T., Hankins, G.R., Washington, M.K., Orton, T.C., Jirtle, R.L. Nat. Genet. (1995) [Pubmed]
  38. Yeast and human TFIID with altered DNA-binding specificity for TATA elements. Strubin, M., Struhl, K. Cell (1992) [Pubmed]
  39. Pyruvate kinase deficiency in mice protects against malaria. Min-Oo, G., Fortin, A., Tam, M.F., Nantel, A., Stevenson, M.M., Gros, P. Nat. Genet. (2003) [Pubmed]
  40. Substitution of murine for human CD4 residues identifies amino acids critical for HIV-gp120 binding. Clayton, L.K., Hussey, R.E., Steinbrich, R., Ramachandran, H., Husain, Y., Reinherz, E.L. Nature (1988) [Pubmed]
  41. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. Wilson, J.M., Kelley, W.N. J. Clin. Invest. (1983) [Pubmed]
  42. Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Fujii, H., Chen, S.H., Akatsuka, J., Miwa, S., Yoshida, A. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  43. Alleles at the PRH1 locus coding for the human salivary-acidic proline-rich proteins Pa, Db, and PIF. Azen, E.A., Kim, H.S., Goodman, P., Flynn, S., Maeda, N. Am. J. Hum. Genet. (1987) [Pubmed]
  44. Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants. Toyama, R., Mukai, S., Itagaki, A., Tamura, S., Shimozawa, N., Suzuki, Y., Kondo, N., Wanders, R.J., Fujiki, Y. Hum. Mol. Genet. (1999) [Pubmed]
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