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

Mutation, Missense

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Disease relevance of Mutation, Missense


Psychiatry related information on Mutation, Missense


High impact information on Mutation, Missense

  • Several lines of evidence, including structural studies and analyses of missense mutations in XLP patients, support the notion that SAP/SH2D1A is a natural inhibitor of SH2-domain-dependent interactions with members of the SLAM family [11].
  • Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC [12].
  • We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNgammaR2 chain [13].
  • Functional studies indicated that the 3-M-associated CUL7 nonsense and missense mutations R1445X and H1464P, respectively, render CUL7 deficient in recruiting ROC1 [14].
  • In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense mutations in the gene dynamin 2 (DNM2, 19p13.2), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly and centrosome cohesion [15].

Chemical compound and disease context of Mutation, Missense


Biological context of Mutation, Missense


Anatomical context of Mutation, Missense


Associations of Mutation, Missense with chemical compounds

  • A missense mutation resulting in an arginine-to-tryptophan substitution at position 849 in the kinase domain of the receptor tyrosine kinase TIE2 segregates with dominantly inherited VM in two unrelated families [31].
  • Three newly-characterized missense mutations, replacing evolutionarily conserved cysteines or creating new cysteine codons, emphasize the functional importance of these sites [32].
  • We detected a deletion-, splice- and missense-mutation in the tyrosine kinase domain in these three patients [33].
  • RESULTS: Four of the 121 obese subjects had a missense mutation in the gene for PPARgamma2 that resulted in the conversion of proline to glutamine at position 115, as compared with none of the 237 subjects of normal weight (P=0.01) [34].
  • A novel missense mutation that changes a threonine in the receptor's sixth membrane-spanning region to proline (T410P) was identified in another patient but not in 62 normal subjects [35].

Gene context of Mutation, Missense


Analytical, diagnostic and therapeutic context of Mutation, Missense


  1. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.M., Paulin, D., Fardeau, M. Nat. Genet. (1998) [Pubmed]
  2. MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. Eppert, K., Scherer, S.W., Ozcelik, H., Pirone, R., Hoodless, P., Kim, H., Tsui, L.C., Bapat, B., Gallinger, S., Andrulis, I.L., Thomsen, G.H., Wrana, J.L., Attisano, L. Cell (1996) [Pubmed]
  3. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. Nat. Genet. (1993) [Pubmed]
  4. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Kremer, H., Kraaij, R., Toledo, S.P., Post, M., Fridman, J.B., Hayashida, C.Y., van Reen, M., Milgrom, E., Ropers, H.H., Mariman, E. Nat. Genet. (1995) [Pubmed]
  5. A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Hager, J., Hansen, L., Vaisse, C., Vionnet, N., Philippi, A., Poller, W., Velho, G., Carcassi, C., Contu, L., Julier, C. Nat. Genet. (1995) [Pubmed]
  6. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., Mandel, J.L., Mulley, J., Sassone-Corsi, P., Hanauer, A. Nat. Genet. (1999) [Pubmed]
  7. Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. Citron, M., Oltersdorf, T., Haass, C., McConlogue, L., Hung, A.Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I., Selkoe, D.J. Nature (1992) [Pubmed]
  8. DNA recognition by the methyl-CpG binding domain of MeCP2. Free, A., Wakefield, R.I., Smith, B.O., Dryden, D.T., Barlow, P.N., Bird, A.P. J. Biol. Chem. (2001) [Pubmed]
  9. The missense mutation in the WKL1 gene not found in patients with bipolar affective disorder. Ewald, H., Lundorf, M.D. Mol. Psychiatry (2002) [Pubmed]
  10. MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India. Verma, R., Mukerji, M., Grover, D., B-Rao, C., Das, S.K., Kubendran, S., Jain, S., Brahmachari, S.K. Biol. Psychiatry (2005) [Pubmed]
  11. X-linked lymphoproliferative disease: a progressive immunodeficiency. Morra, M., Howie, D., Grande, M.S., Sayos, J., Wang, N., Wu, C., Engel, P., Terhorst, C. Annu. Rev. Immunol. (2001) [Pubmed]
  12. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Jordanova, A., Irobi, J., Thomas, F.P., Van Dijck, P., Meerschaert, K., Dewil, M., Dierick, I., Jacobs, A., De Vriendt, E., Guergueltcheva, V., Rao, C.V., Tournev, I., Gondim, F.A., D'Hooghe, M., Van Gerwen, V., Callaerts, P., Van Den Bosch, L., Timmermans, J.P., Robberecht, W., Gettemans, J., Thevelein, J.M., De Jonghe, P., Kremensky, I., Timmerman, V. Nat. Genet. (2006) [Pubmed]
  13. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Vogt, G., Chapgier, A., Yang, K., Chuzhanova, N., Feinberg, J., Fieschi, C., Boisson-Dupuis, S., Alcais, A., Filipe-Santos, O., Bustamante, J., de Beaucoudrey, L., Al-Mohsen, I., Al-Hajjar, S., Al-Ghonaium, A., Adimi, P., Mirsaeidi, M., Khalilzadeh, S., Rosenzweig, S., de la Calle Martin, O., Bauer, T.R., Puck, J.M., Ochs, H.D., Furthner, D., Engelhorn, C., Belohradsky, B., Mansouri, D., Holland, S.M., Schreiber, R.D., Abel, L., Cooper, D.N., Soudais, C., Casanova, J.L. Nat. Genet. (2005) [Pubmed]
  14. Identification of mutations in CUL7 in 3-M syndrome. Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., Xu, X., Pearce, K., Wang, R., Uzielli, M.L., Dagoneau, N., Chemaitilly, W., Superti-Furga, A., Dos Santos, H., Mégarbané, A., Morin, G., Gillessen-Kaesbach, G., Hennekam, R., Van der Burgt, I., Black, G.C., Clayton, P.E., Read, A., Le Merrer, M., Scambler, P.J., Munnich, A., Pan, Z.Q., Winter, R., Cormier-Daire, V. Nat. Genet. (2005) [Pubmed]
  15. Mutations in dynamin 2 cause dominant centronuclear myopathy. Bitoun, M., Maugenre, S., Jeannet, P.Y., Lacène, E., Ferrer, X., Laforêt, P., Martin, J.J., Laporte, J., Lochmüller, H., Beggs, A.H., Fardeau, M., Eymard, B., Romero, N.B., Guicheney, P. Nat. Genet. (2005) [Pubmed]
  16. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Calonge, M.J., Gasparini, P., Chillarón, J., Chillón, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F. Nat. Genet. (1994) [Pubmed]
  17. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Le Merrer, M., Munnich, A. Nature (1994) [Pubmed]
  18. A paired sibling analysis of the beta-3 adrenergic receptor and obesity in Mexican Americans. Mitchell, B.D., Blangero, J., Comuzzie, A.G., Almasy, L.A., Shuldiner, A.R., Silver, K., Stern, M.P., MacCluer, J.W., Hixson, J.E. J. Clin. Invest. (1998) [Pubmed]
  19. Mutations in the tumor suppressors Smad2 and Smad4 inactivate transforming growth factor beta signaling by targeting Smads to the ubiquitin-proteasome pathway. Xu, J., Attisano, L. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  20. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Kotowski, I.K., Pertsemlidis, A., Luke, A., Cooper, R.S., Vega, G.L., Cohen, J.C., Hobbs, H.H. Am. J. Hum. Genet. (2006) [Pubmed]
  21. A mutation in CFTR produces different phenotypes depending on chromosomal background. Kiesewetter, S., Macek, M., Davis, C., Curristin, S.M., Chu, C.S., Graham, C., Shrimpton, A.E., Cashman, S.M., Tsui, L.C., Mickle, J. Nat. Genet. (1993) [Pubmed]
  22. Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Dolphin, C.T., Janmohamed, A., Smith, R.L., Shephard, E.A., Phillips, I.R. Nat. Genet. (1997) [Pubmed]
  23. 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]
  24. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Curran, M.E., Splawski, I., Timothy, K.W., Vincent, G.M., Green, E.D., Keating, M.T. Cell (1995) [Pubmed]
  25. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Castilla, L.H., Couch, F.J., Erdos, M.R., Hoskins, K.F., Calzone, K., Garber, J.E., Boyd, J., Lubin, M.B., Deshano, M.L., Brody, L.C. Nat. Genet. (1994) [Pubmed]
  26. Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Barnes, D.E., Tomkinson, A.E., Lehmann, A.R., Webster, A.D., Lindahl, T. Cell (1992) [Pubmed]
  27. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Clifton-Bligh, R.J., Wentworth, J.M., Heinz, P., Crisp, M.S., John, R., Lazarus, J.H., Ludgate, M., Chatterjee, V.K. Nat. Genet. (1998) [Pubmed]
  28. Pushing the envelope on lipodystrophy. Flier, J.S. Nat. Genet. (2000) [Pubmed]
  29. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E., Berkovic, S.F. Nat. Genet. (1995) [Pubmed]
  30. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Verhoeven, K., Van Laer, L., Kirschhofer, K., Legan, P.K., Hughes, D.C., Schatteman, I., Verstreken, M., Van Hauwe, P., Coucke, P., Chen, A., Smith, R.J., Somers, T., Offeciers, F.E., Van de Heyning, P., Richardson, G.P., Wachtler, F., Kimberling, W.J., Willems, P.J., Govaerts, P.J., Van Camp, G. Nat. Genet. (1998) [Pubmed]
  31. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Vikkula, M., Boon, L.M., Carraway, K.L., Calvert, J.T., Diamonti, A.J., Goumnerov, B., Pasyk, K.A., Marchuk, D.A., Warman, M.L., Cantley, L.C., Mulliken, J.B., Olsen, B.R. Cell (1996) [Pubmed]
  32. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Meindl, A., Berger, W., Meitinger, T., van de Pol, D., Achatz, H., Dörner, C., Haasemann, M., Hellebrand, H., Gal, A., Cremers, F. Nat. Genet. (1992) [Pubmed]
  33. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M.A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Nat. Genet. (1996) [Pubmed]
  34. Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. Ristow, M., Müller-Wieland, D., Pfeiffer, A., Krone, W., Kahn, C.R. N. Engl. J. Med. (1998) [Pubmed]
  35. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. Schipani, E., Langman, C.B., Parfitt, A.M., Jensen, G.S., Kikuchi, S., Kooh, S.W., Cole, W.G., Jüppner, H. N. Engl. J. Med. (1996) [Pubmed]
  36. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Risinger, J.I., Umar, A., Boyd, J., Berchuck, A., Kunkel, T.A., Barrett, J.C. Nat. Genet. (1996) [Pubmed]
  37. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Bonne, G., Di Barletta, M.R., Varnous, S., Bécane, H.M., Hammouda, E.H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.A., Duboc, D., Fardeau, M., Toniolo, D., Schwartz, K. Nat. Genet. (1999) [Pubmed]
  38. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., Zoghbi, H.Y. Nat. Genet. (1999) [Pubmed]
  39. Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin. Scoles, D.R., Huynh, D.P., Morcos, P.A., Coulsell, E.R., Robinson, N.G., Tamanoi, F., Pulst, S.M. Nat. Genet. (1998) [Pubmed]
  40. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Minetti, C., Sotgia, F., Bruno, C., Scartezzini, P., Broda, P., Bado, M., Masetti, E., Mazzocco, M., Egeo, A., Donati, M.A., Volonte, D., Galbiati, F., Cordone, G., Bricarelli, F.D., Lisanti, M.P., Zara, F. Nat. Genet. (1998) [Pubmed]
  41. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T., Morita, R., Bai, D., Ganesh, S., Sugimoto, Y., Inazawa, J., Bailey, J.N., Ochoa, A., Jara-Prado, A., Rasmussen, A., Ramos-Peek, J., Cordova, S., Rubio-Donnadieu, F., Inoue, Y., Osawa, M., Kaneko, S., Oguni, H., Mori, Y., Yamakawa, K. Nat. Genet. (2004) [Pubmed]
  42. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.C., Niaudet, P., Antignac, C. Nat. Genet. (2000) [Pubmed]
  43. Ethanol opens G-protein-activated inwardly rectifying K+ channels. Kobayashi, T., Ikeda, K., Kojima, H., Niki, H., Yano, R., Yoshioka, T., Kumanishi, T. Nat. Neurosci. (1999) [Pubmed]
  44. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Waterham, H.R., Koster, J., Romeijn, G.J., Hennekam, R.C., Vreken, P., Andersson, H.C., FitzPatrick, D.R., Kelley, R.I., Wanders, R.J. Am. J. Hum. Genet. (2001) [Pubmed]
  45. Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations. Wallace, D.C., Stugard, C., Murdock, D., Schurr, T., Brown, M.D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
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