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Volumn 4, Issue 11, 2003, Pages

The amino-acid mutational spectrum of human genetic disease

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

EID: 1542577828     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/gb-2003-4-11-r72     Document Type: Article
Times cited : (165)

References (42)
  • 1
    • 0035065485 scopus 로고    scopus 로고
    • SNPs, protein structure, and disease.
    • 10.1002/humu.22, 11295823
    • Wang Z, Moult J. SNPs, protein structure, and disease. Hum Mutat 2001, 17:263-270. 10.1002/humu.22, 11295823.
    • (2001) Hum Mutat , vol.17 , pp. 263-270
    • Wang, Z.1    Moult, J.2
  • 3
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions.
    • 10.1101/gr.176601, 11337480, 311071
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001, 11:863-874. 10.1101/gr.176601, 11337480, 311071.
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 4
    • 0035937259 scopus 로고    scopus 로고
    • Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation.
    • 10.1006/jmbi.2001.4510, 11254390
    • Chasman D, Adams M. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. J Mol Biol 2001, 307:683-706. 10.1006/jmbi.2001.4510, 11254390.
    • (2001) J Mol Biol , vol.307 , pp. 683-706
    • Chasman, D.1    Adams, M.2
  • 5
    • 0035504763 scopus 로고    scopus 로고
    • Understanding human disease mutations through the use of interspecific variation.
    • 10.1093/hmg/10.21.2319, 11689479
    • Miller MP, Kumar S. Understanding human disease mutations through the use of interspecific variation. Hum Mol Genet 2001, 10:2319-2328. 10.1093/hmg/10.21.2319, 11689479.
    • (2001) Hum Mol Genet , vol.10 , pp. 2319-2328
    • Miller, M.P.1    Kumar, S.2
  • 6
    • 0036321534 scopus 로고    scopus 로고
    • Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.
    • 10.1002/humu.10095, 12124990
    • Terp BN, Cooper DN, Christensen IT, Jorgensen FS, Bross P, Gregersen N, Krawczak M. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. Hum Mutat 2002, 20:98-109. 10.1002/humu.10095, 12124990.
    • (2002) Hum Mutat , vol.20 , pp. 98-109
    • Terp, B.N.1    Cooper, D.N.2    Christensen, I.T.3    Jorgensen, F.S.4    Bross, P.5    Gregersen, N.6    Krawczak, M.7
  • 8
    • 0029916911 scopus 로고    scopus 로고
    • The SWISS-PROT protein sequence data bank and its new supplement TrEMBL.
    • 145613, 8594581, 10.1093/nar/24.1.21
    • Bairoch A, Apweiler R. The SWISS-PROT protein sequence data bank and its new supplement TrEMBL. Nucleic Acids Res 1996, 24:21-25. 145613, 8594581, 10.1093/nar/24.1.21.
    • (1996) Nucleic Acids Res , vol.24 , pp. 21-25
    • Bairoch, A.1    Apweiler, R.2
  • 10
    • 0000228203 scopus 로고
    • A model of evolutionary change in proteins.
    • Dayhoff MO, Silver Spring: National Biomedical Research Foundation
    • Dayhoff MO. A model of evolutionary change in proteins. In Atlas of Protein Sequence and Structure 1978, 345-352. Dayhoff MO, Silver Spring: National Biomedical Research Foundation.
    • (1978) In Atlas of Protein Sequence and Structure , pp. 345-352
    • Dayhoff, M.O.1
  • 13
    • 0028294455 scopus 로고
    • Wide variations in neighbor-dependent substitution rates.
    • 10.1016/0022-2836(94)90009-4, 8120884
    • Hess ST, Blake JD, Blake RD. Wide variations in neighbor-dependent substitution rates. J Mol Biol 1994, 236:1022-1033. 10.1016/0022-2836(94)90009-4, 8120884.
    • (1994) J Mol Biol , vol.236 , pp. 1022-1033
    • Hess, S.T.1    Blake, J.D.2    Blake, R.D.3
  • 14
  • 15
    • 0028092214 scopus 로고
    • Amino acid substitution during functionally constrained divergent evolution of protein sequences.
    • Benner SA, Cohen MA, Gonnet GH. Amino acid substitution during functionally constrained divergent evolution of protein sequences. Protein Eng 1994, 7:1323-1332.
    • (1994) Protein Eng , vol.7 , pp. 1323-1332
    • Benner, S.A.1    Cohen, M.A.2    Gonnet, G.H.3
  • 16
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease.
    • 10.1007/BF00278187, 3338800
    • Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988, 78:151-155. 10.1007/BF00278187, 3338800.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 17
    • 0032231701 scopus 로고    scopus 로고
    • Neighboring-nucleotide effects on the rates of germ-line single base-pair substitution in human genes.
    • 10.1086/301965, 9683596
    • Krawczak M, Ball EV, Cooper DN. Neighboring-nucleotide effects on the rates of germ-line single base-pair substitution in human genes. Am J Hum Genet 1998, 63:474-488. 10.1086/301965, 9683596.
    • (1998) Am J Hum Genet , vol.63 , pp. 474-488
    • Krawczak, M.1    Ball, E.V.2    Cooper, D.N.3
  • 18
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function.
    • 155281, 11875032, 10.1101/gr.212802
    • Ng PC, Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002, 12:436-446. 155281, 11875032, 10.1101/gr.212802.
    • (2002) Genome Res , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 19
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: server and survey.
    • 137415, 12202775, 10.1093/nar/gkf493
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900. 137415, 12202775, 10.1093/nar/gkf493.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 20
    • 0036300807 scopus 로고    scopus 로고
    • Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.
    • 10.1006/jmbi.2001.5255, 11812146
    • Ferrer-Costa C, Orozco M, de la Cruz X. Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. J Mol Biol 2002, 315:771-786. 10.1006/jmbi.2001.5255, 11812146.
    • (2002) J Mol Biol , vol.315 , pp. 771-786
    • Ferrer-Costa, C.1    Orozco, M.2    de la Cruz, X.3
  • 21
    • 0033969946 scopus 로고    scopus 로고
    • Solvent accessibility and purifying selection within proteins of Escherichia coli and Salmonella enterica.
    • Bustamante CD, Townsend JP, Hartl DL. Solvent accessibility and purifying selection within proteins of Escherichia coli and Salmonella enterica. Mol Biol Evol 2000, 17:301-308.
    • (2000) Mol Biol Evol , vol.17 , pp. 301-308
    • Bustamante, C.D.1    Townsend, J.P.2    Hartl, D.L.3
  • 22
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution.
    • Grantham R. Amino acid difference formula to help explain protein evolution. Science 1974, 185:862-864.
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 23
    • 0034924997 scopus 로고    scopus 로고
    • Positive and negative selection on the human genome.
    • Fay JC, Wyckoff GJ, Wu CI. Positive and negative selection on the human genome. Genetics 2001, 158:1227-1234.
    • (2001) Genetics , vol.158 , pp. 1227-1234
    • Fay, J.C.1    Wyckoff, G.J.2    Wu, C.I.3
  • 24
    • 0036888970 scopus 로고    scopus 로고
    • A biased assessment of the use of SNPs in human complex traits.
    • 10.1016/S0959-437X(02)00357-X, 12433588
    • Terwilliger JD, Haghighi F, Heikkalinna TS, Goring HH. A biased assessment of the use of SNPs in human complex traits. Curr Opin Genet Dev 2002, 12:726-734. 10.1016/S0959-437X(02)00357-X, 12433588.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 726-734
    • Terwilliger, J.D.1    Haghighi, F.2    Heikkalinna, T.S.3    Goring, H.H.4
  • 25
    • 0037312921 scopus 로고    scopus 로고
    • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.
    • 10.1038/ng1071, 12524541
    • Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003, 33:177-182. 10.1038/ng1071, 12524541.
    • (2003) Nat Genet , vol.33 , pp. 177-182
    • Lohmueller, K.E.1    Pearce, C.L.2    Pike, M.3    Lander, E.S.4    Hirschhorn, J.N.5
  • 27
    • 0029962946 scopus 로고    scopus 로고
    • Amino acid sequence determinants of beta-lactamase structure and activity.
    • 10.1006/jmbi.1996.0279, 8637002
    • Huang W, Petrosino J, Hirsch M, Shenkin PS, Palzkill T. Amino acid sequence determinants of beta-lactamase structure and activity. J Mol Biol 1996, 258:688-703. 10.1006/jmbi.1996.0279, 8637002.
    • (1996) J Mol Biol , vol.258 , pp. 688-703
    • Huang, W.1    Petrosino, J.2    Hirsch, M.3    Shenkin, P.S.4    Palzkill, T.5
  • 28
    • 0024792699 scopus 로고
    • Genetic analysis of protein stability and function.
    • 10.1146/annurev.ge.23.120189.001445, 2694933
    • Pakula AA, Sauer RT. Genetic analysis of protein stability and function. Annu Rev Genet 1989, 23:289-310. 10.1146/annurev.ge.23.120189.001445, 2694933.
    • (1989) Annu Rev Genet , vol.23 , pp. 289-310
    • Pakula, A.A.1    Sauer, R.T.2
  • 29
    • 0030045089 scopus 로고    scopus 로고
    • Structural and genetic analysis of the folding and function of T4 lysozyme.
    • Matthews BW. Structural and genetic analysis of the folding and function of T4 lysozyme. FASEB J 1996, 10:35-41.
    • (1996) FASEB J , vol.10 , pp. 35-41
    • Matthews, B.W.1
  • 30
    • 0033828761 scopus 로고    scopus 로고
    • Estimate of the mutation rate per nucleotide in humans.
    • Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics 2000, 156:297-304.
    • (2000) Genetics , vol.156 , pp. 297-304
    • Nachman, M.W.1    Crowell, S.L.2
  • 31
    • 0033611501 scopus 로고    scopus 로고
    • High genomic deleterious mutation rates in hominids.
    • 10.1038/16915, 9950425
    • Eyre-Walker A, Keightley PD. High genomic deleterious mutation rates in hominids. Nature 1999, 397:344-347. 10.1038/16915, 9950425.
    • (1999) Nature , vol.397 , pp. 344-347
    • Eyre-Walker, A.1    Keightley, P.D.2
  • 32
    • 0026458378 scopus 로고
    • Amino acid substitution matrices from protein blocks.
    • 50453, 1438297
    • Henikoff S, Henikoff JG. Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA 1992, 89:10915-10919. 50453, 1438297.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 10915-10919
    • Henikoff, S.1    Henikoff, J.G.2
  • 33
    • 0033940849 scopus 로고    scopus 로고
    • Recombinational and mutational hotspots within the human lipoprotein lipase gene.
    • 10.1086/302699, 10631137
    • Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. Recombinational and mutational hotspots within the human lipoprotein lipase gene. Am J Hum Genet 2000, 66:69-83. 10.1086/302699, 10631137.
    • (2000) Am J Hum Genet , vol.66 , pp. 69-83
    • Templeton, A.R.1    Clark, A.G.2    Weiss, K.M.3    Nickerson, D.A.4    Boerwinkle, E.5    Sing, C.F.6
  • 34
    • 0035546221 scopus 로고    scopus 로고
    • Statistical inference of sequence-dependent mutation rates.
    • 10.1016/S0959-437X(00)00242-2, 11682302
    • Zavolan M, Kepler TB. Statistical inference of sequence-dependent mutation rates. Curr Opin Genet Dev 2001, 11:612-615. 10.1016/S0959-437X(00)00242-2, 11682302.
    • (2001) Curr Opin Genet Dev , vol.11 , pp. 612-615
    • Zavolan, M.1    Kepler, T.B.2
  • 35
    • 0035142960 scopus 로고    scopus 로고
    • Use of mutation spectra analysis software.
    • 10.1002/1098-1004(200102)17:2<83::AID-HUMU1>3.0.CO;2-E, 11180592
    • Rogozin I, Kondrashov F, Glazko G. Use of mutation spectra analysis software. Hum Mutat 2001, 17:83-102. 10.1002/1098-1004(200102)17:2<83::AID-HUMU1>3.0.CO;2-E, 11180592.
    • (2001) Hum Mutat , vol.17 , pp. 83-102
    • Rogozin, I.1    Kondrashov, F.2    Glazko, G.3
  • 36
    • 0029901640 scopus 로고    scopus 로고
    • Analysis of compositionally biased regions in sequence databases.
    • Wootton JC, Federhen S. Analysis of compositionally biased regions in sequence databases. Methods Enzymol 1996, 266:554-571.
    • (1996) Methods Enzymol , vol.266 , pp. 554-571
    • Wootton, J.C.1    Federhen, S.2
  • 37
    • 0031829372 scopus 로고    scopus 로고
    • Removing near-neighbour redundancy from large protein sequence collections.
    • 10.1093/bioinformatics/14.5.423, 9682055
    • Holm L, Sander C. Removing near-neighbour redundancy from large protein sequence collections. Bioinformatics 1998, 14:423-429. 10.1093/bioinformatics/14.5.423, 9682055.
    • (1998) Bioinformatics , vol.14 , pp. 423-429
    • Holm, L.1    Sander, C.2
  • 39
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: a new generation of protein database search programs.
    • 146917, 9254694, 10.1093/nar/25.17.3389
    • Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acid Res 1997, 25:3389-3402. 146917, 9254694, 10.1093/nar/25.17.3389.
    • (1997) Nucleic Acid Res , vol.25 , pp. 3389-3402
    • Altschul, S.F.1    Madden, T.L.2    Schaffer, A.A.3    Zhang, J.4    Zhang, Z.5    Miller, W.6    Lipman, D.J.7
  • 41
    • 0003742069 scopus 로고
    • London: Department of Biochemistry and Molecular Biology, University College London
    • Hubbard SJ, Thornton JM. NACCESS Computer Program 1993, London: Department of Biochemistry and Molecular Biology, University College London.
    • (1993) NACCESS Computer Program
    • Hubbard, S.J.1    Thornton, J.M.2
  • 42
    • 0004155865 scopus 로고    scopus 로고
    • Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press
    • Mount DW. Bioinformatics 2001, Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
    • (2001) Bioinformatics
    • Mount, D.W.1


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