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

Point Mutation

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Disease relevance of Point Mutation

  • We previously found that activation of the K-ras oncogene by a point mutation in codon 12 occurs in about one third of human lung adenocarcinomas [1].
  • A specific point mutation in the gene coding for coagulation factor V is associated with resistance to degradation by activated protein C, a recently described abnormality of coagulation that may be associated with an increased risk of venous thrombosis [2].
  • To date, more than 300 distinct small deletions, insertions and point mutations, mostly leading to premature termination of translation, have been reported in the breast/ovarian-cancer susceptibility gene BRCA1 [3].
  • We show that a point mutation causing hemophilia B changes the amino acid at position -4 in the propeptide region of factor IX from an arginine to a glutamine, which results in the expression of a stable longer protein with 18 additional amino acids of the N-terminal propeptide region still attached [4].
  • We also describe a case of adult human mesothelioma, a tumour derived from the peritoneal lining, that contains a homozygous point mutation within WT1 [5].

Psychiatry related information on Point Mutation


High impact information on Point Mutation


Chemical compound and disease context of Point Mutation


Biological context of Point Mutation


Anatomical context of Point Mutation


Associations of Point Mutation with chemical compounds


Gene context of Point Mutation


Analytical, diagnostic and therapeutic context of Point Mutation


  1. K-ras oncogene activation as a prognostic marker in adenocarcinoma of the lung. Slebos, R.J., Kibbelaar, R.E., Dalesio, O., Kooistra, A., Stam, J., Meijer, C.J., Wagenaar, S.S., Vanderschueren, R.G., van Zandwijk, N., Mooi, W.J. N. Engl. J. Med. (1990) [Pubmed]
  2. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. Ridker, P.M., Hennekens, C.H., Lindpaintner, K., Stampfer, M.J., Eisenberg, P.R., Miletich, J.P. N. Engl. J. Med. (1995) [Pubmed]
  3. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Petrij-Bosch, A., Peelen, T., van Vliet, M., van Eijk, R., Olmer, R., Drüsedau, M., Hogervorst, F.B., Hageman, S., Arts, P.J., Ligtenberg, M.J., Meijers-Heijboer, H., Klijn, J.G., Vasen, H.F., Cornelisse, C.J., van 't Veer, L.J., Bakker, E., van Ommen, G.J., Devilee, P. Nat. Genet. (1997) [Pubmed]
  4. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Bentley, A.K., Rees, D.J., Rizza, C., Brownlee, G.G. Cell (1986) [Pubmed]
  5. The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma. Park, S., Schalling, M., Bernard, A., Maheswaran, S., Shipley, G.C., Roberts, D., Fletcher, J., Shipman, R., Rheinwald, J., Demetri, G. Nat. Genet. (1993) [Pubmed]
  6. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Meloni, I., Muscettola, M., Raynaud, M., Longo, I., Bruttini, M., Moizard, M.P., Gomot, M., Chelly, J., des Portes, V., Fryns, J.P., Ropers, H.H., Magi, B., Bellan, C., Volpi, N., Yntema, H.G., Lewis, S.E., Schaffer, J.E., Renieri, A. Nat. Genet. (2002) [Pubmed]
  7. A stop-codon mutation in the BRI gene associated with familial British dementia. Vidal, R., Frangione, B., Rostagno, A., Mead, S., Révész, T., Plant, G., Ghiso, J. Nature (1999) [Pubmed]
  8. Synthetic peptides corresponding to different mutated regions of the amyloid gene in familial Creutzfeldt-Jakob disease show enhanced in vitro formation of morphologically different amyloid fibrils. Goldfarb, L.G., Brown, P., Haltia, M., Ghiso, J., Frangione, B., Gajdusek, D.C. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  9. Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Peacock, M.L., Murman, D.L., Sima, A.A., Warren, J.T., Roses, A.D., Fink, J.K. Ann. Neurol. (1994) [Pubmed]
  10. Bilateral brain abnormalities associated with dominantly inherited verbal and orofacial dyspraxia. Belton, E., Salmond, C.H., Watkins, K.E., Vargha-Khadem, F., Gadian, D.G. Human brain mapping. (2003) [Pubmed]
  11. A receptor-modifying deamidase in complex with a signaling phosphatase reveals reciprocal regulation. Chao, X., Muff, T.J., Park, S.Y., Zhang, S., Pollard, A.M., Ordal, G.W., Bilwes, A.M., Crane, B.R. Cell (2006) [Pubmed]
  12. CTCF maintains differential methylation at the Igf2/H19 locus. Schoenherr, C.J., Levorse, J.M., Tilghman, S.M. Nat. Genet. (2003) [Pubmed]
  13. Mutations in Rab3a alter circadian period and homeostatic response to sleep loss in the mouse. Kapfhamer, D., Valladares, O., Sun, Y., Nolan, P.M., Rux, J.J., Arnold, S.E., Veasey, S.C., Bućan, M. Nat. Genet. (2002) [Pubmed]
  14. A structural mechanism of integrin alpha(IIb)beta(3) "inside-out" activation as regulated by its cytoplasmic face. Vinogradova, O., Velyvis, A., Velyviene, A., Hu, B., Haas, T., Plow, E., Qin, J. Cell (2002) [Pubmed]
  15. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. Medori, R., Tritschler, H.J., LeBlanc, A., Villare, F., Manetto, V., Chen, H.Y., Xue, R., Leal, S., Montagna, P., Cortelli, P. N. Engl. J. Med. (1992) [Pubmed]
  16. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. Highsmith, W.E., Burch, L.H., Zhou, Z., Olsen, J.C., Boat, T.E., Spock, A., Gorvoy, J.D., Quittel, L., Friedman, K.J., Silverman, L.M. N. Engl. J. Med. (1994) [Pubmed]
  17. Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Songyang, Z., Carraway, K.L., Eck, M.J., Harrison, S.C., Feldman, R.A., Mohammadi, M., Schlessinger, J., Hubbard, S.R., Smith, D.P., Eng, C. Nature (1995) [Pubmed]
  18. Mutations of the BRAF gene in human cancer. Davies, H., Bignell, G.R., Cox, C., Stephens, P., Edkins, S., Clegg, S., Teague, J., Woffendin, H., Garnett, M.J., Bottomley, W., Davis, N., Dicks, E., Ewing, R., Floyd, Y., Gray, K., Hall, S., Hawes, R., Hughes, J., Kosmidou, V., Menzies, A., Mould, C., Parker, A., Stevens, C., Watt, S., Hooper, S., Wilson, R., Jayatilake, H., Gusterson, B.A., Cooper, C., Shipley, J., Hargrave, D., Pritchard-Jones, K., Maitland, N., Chenevix-Trench, G., Riggins, G.J., Bigner, D.D., Palmieri, G., Cossu, A., Flanagan, A., Nicholson, A., Ho, J.W., Leung, S.Y., Yuen, S.T., Weber, B.L., Seigler, H.F., Darrow, T.L., Paterson, H., Marais, R., Marshall, C.J., Wooster, R., Stratton, M.R., Futreal, P.A. Nature (2002) [Pubmed]
  19. Experimental evidence for an alternative to directed mutation in the bgl operon. Mittler, J.E., Lenski, R.E. Nature (1992) [Pubmed]
  20. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. Roa, B.B., Garcia, C.A., Suter, U., Kulpa, D.A., Wise, C.A., Mueller, J., Welcher, A.A., Snipes, G.J., Shooter, E.M., Patel, P.I., Lupski, J.R. N. Engl. J. Med. (1993) [Pubmed]
  21. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Arikawa-Hirasawa, E., Wilcox, W.R., Le, A.H., Silverman, N., Govindraj, P., Hassell, J.R., Yamada, Y. Nat. Genet. (2001) [Pubmed]
  22. Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Ho, M., Chelly, J., Carter, N., Danek, A., Crocker, P., Monaco, A.P. Cell (1994) [Pubmed]
  23. Expression of the H-ras proto-oncogene is controlled by alternative splicing. Cohen, J.B., Broz, S.D., Levinson, A.D. Cell (1989) [Pubmed]
  24. Dominant and recessive alleles of the Drosophila easter gene are point mutations at conserved sites in the serine protease catalytic domain. Jin, Y.S., Anderson, K.V. Cell (1990) [Pubmed]
  25. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Stone, R.L., Aimi, J., Barshop, B.A., Jaeken, J., Van den Berghe, G., Zalkin, H., Dixon, J.E. Nat. Genet. (1992) [Pubmed]
  26. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Roa, B.B., Garcia, C.A., Pentao, L., Killian, J.M., Trask, B.J., Suter, U., Snipes, G.J., Ortiz-Lopez, R., Shooter, E.M., Patel, P.I., Lupski, J.R. Nat. Genet. (1993) [Pubmed]
  27. Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein. Hua, X., Nohturfft, A., Goldstein, J.L., Brown, M.S. Cell (1996) [Pubmed]
  28. Temperature-sensitive mutations demonstrate roles for yeast fibrillarin in pre-rRNA processing, pre-rRNA methylation, and ribosome assembly. Tollervey, D., Lehtonen, H., Jansen, R., Kern, H., Hurt, E.C. Cell (1993) [Pubmed]
  29. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Korthäuer, U., Graf, D., Mages, H.W., Brière, F., Padayachee, M., Malcolm, S., Ugazio, A.G., Notarangelo, L.D., Levinsky, R.J., Kroczek, R.A. Nature (1993) [Pubmed]
  30. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Derry, J.M., Ochs, H.D., Francke, U. Cell (1994) [Pubmed]
  31. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Shiang, R., Ryan, S.G., Zhu, Y.Z., Hahn, A.F., O'Connell, P., Wasmuth, J.J. Nat. Genet. (1993) [Pubmed]
  32. The FT210 cell line is a mouse G2 phase mutant with a temperature-sensitive CDC2 gene product. Th'ng, J.P., Wright, P.S., Hamaguchi, J., Lee, M.G., Norbury, C.J., Nurse, P., Bradbury, E.M. Cell (1990) [Pubmed]
  33. Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185. Bargmann, C.I., Hung, M.C., Weinberg, R.A. Cell (1986) [Pubmed]
  34. CaMKII regulates the frequency-response function of hippocampal synapses for the production of both LTD and LTP. Mayford, M., Wang, J., Kandel, E.R., O'Dell, T.J. Cell (1995) [Pubmed]
  35. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Roa, B.B., Dyck, P.J., Marks, H.G., Chance, P.F., Lupski, J.R. Nat. Genet. (1993) [Pubmed]
  36. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Patel, P.I., Roa, B.B., Welcher, A.A., Schoener-Scott, R., Trask, B.J., Pentao, L., Snipes, G.J., Garcia, C.A., Francke, U., Shooter, E.M., Lupski, J.R., Suter, U. Nat. Genet. (1992) [Pubmed]
  37. A point mutation in PTPRC is associated with the development of multiple sclerosis. Jacobsen, M., Schweer, D., Ziegler, A., Gaber, R., Schock, S., Schwinzer, R., Wonigeit, K., Lindert, R.B., Kantarci, O., Schaefer-Klein, J., Schipper, H.I., Oertel, W.H., Heidenreich, F., Weinshenker, B.G., Sommer, N., Hemmer, B. Nat. Genet. (2000) [Pubmed]
  38. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Shears, D.J., Vassal, H.J., Goodman, F.R., Palmer, R.W., Reardon, W., Superti-Furga, A., Scambler, P.J., Winter, R.M. Nat. Genet. (1998) [Pubmed]
  39. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Browne, D.L., Gancher, S.T., Nutt, J.G., Brunt, E.R., Smith, E.A., Kramer, P., Litt, M. Nat. Genet. (1994) [Pubmed]
  40. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. Newport, M.J., Huxley, C.M., Huston, S., Hawrylowicz, C.M., Oostra, B.A., Williamson, R., Levin, M. N. Engl. J. Med. (1996) [Pubmed]
  41. DNA binding of the glucocorticoid receptor is not essential for survival. Reichardt, H.M., Kaestner, K.H., Tuckermann, J., Kretz, O., Wessely, O., Bock, R., Gass, P., Schmid, W., Herrlich, P., Angel, P., Schütz, G. Cell (1998) [Pubmed]
  42. Detection of K-ras oncogene mutations in bronchoalveolar lavage fluid for lung cancer diagnosis. Mills, N.E., Fishman, C.L., Scholes, J., Anderson, S.E., Rom, W.N., Jacobson, D.R. J. Natl. Cancer Inst. (1995) [Pubmed]
  43. Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours. Crook, T., Wrede, D., Tidy, J.A., Mason, W.P., Evans, D.J., Vousden, K.H. Lancet (1992) [Pubmed]
  44. A charged amino acid substitution within the transmembrane anchor of the Rous sarcoma virus envelope glycoprotein affects surface expression but not intracellular transport. Davis, G.L., Hunter, E. J. Cell Biol. (1987) [Pubmed]
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