Collins FS, Brooks LD, Chakravarti A: A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation. Genome Research 1998, 8(12):1229–1231.
CAS
PubMed
Google Scholar
Taillon-Miller P, Gu Z, Li Q, Hillier L, Kwok PY: Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. Genome Research 1998, 8(7):748–754.
PubMed Central
CAS
PubMed
Google Scholar
Schattner P, Diekhans M: Regions of extreme synonymous codon selection in mammalian genes. Nucleic Acids Research 2006, 34(6):1700–1710. 10.1093/nar/gkl095
Article
PubMed Central
CAS
PubMed
Google Scholar
Sauna ZE, Kimchi-Sarfaty C, Ambudkar SV, Gottesman MM: Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer. Cancer Research 2007, 67(20):9609–9612. 10.1158/0008-5472.CAN-07-2377
Article
CAS
PubMed
Google Scholar
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K: dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 2001, 29: 308–311. 10.1093/nar/29.1.308
Article
PubMed Central
CAS
PubMed
Google Scholar
Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, Chen Y, Clarke L, Coates G, Cunningham F, Cutts T, Down T, Dyer SC, Fitzgerald S, Fernandez-Banet J, Graf S, Haider S, Hammond M, Herrero J, Holland R, Howe K, Howe K, Johnson N, Kahari A, Keefe D, Kokocinski F, Kulesha E, Lawson D, Longden I, Melsopp C, Megy K, Meidl P, Ouverdin B, Parker A, Prlic A, Rice S, Rios D, Schuster M, Sealy I, Severin J, Slater G, Smedley D, Spudich G, Trevanion S, Vilella A, Vogel J, White S, Wood M, Cox T, Curwen V, Durbin R, Fernandez-Suarez XM, Flicek P, Kasprzyk A, Proctor G, Searle S, Smith J, Ureta-Vidal A, Birney E: Ensembl 2007. Nucleic Acids Res 2007, 35(Database issue):D610-D617. 10.1093/nar/gkl996
Article
PubMed Central
CAS
PubMed
Google Scholar
Consortium H: The International HapMap Project. Nature 2003, 426: 789–796. 10.1038/nature02168
Article
Google Scholar
Bromberg Y, Yachdav G, Rost B: SNAP predicts effect of mutations on protein function. Bioinformatics 2008, 24(20):2397–2398. 10.1093/bioinformatics/btn435
Article
PubMed Central
CAS
PubMed
Google Scholar
Mort M, Ivanov D, Cooper DN, Chuzhanova NA: A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation 2008, 29(8):1037–1047. 10.1002/humu.20763
Article
CAS
PubMed
Google Scholar
Torkamani A, Schork NJ: Accurate prediction of deleterious protein kinase polymorphisms. Bioinformatics 2007, 23(21):2918–2925. 10.1093/bioinformatics/btm437
Article
CAS
PubMed
Google Scholar
Yue P, Moult J: Identification and analysis of deleterious human SNPs. Journal of Molecular Biology 2006, 356(5):1263–1274. 10.1016/j.jmb.2005.12.025
Article
CAS
PubMed
Google Scholar
Gabdoulline RR, Ulbrich S, Richter S, Wade RC: ProSAT2-Protein Structure Annotation Server. Nucleic Acids Res 2006, 34(Web Server):W79–83. 10.1093/nar/gkl216
Article
PubMed Central
CAS
PubMed
Google Scholar
Ferrer-Costa C, Gelpí JL, Zamakola L, Parraga I, de la Cruz X, Orozco M: PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 2005, 21(14):3176–3178. 10.1093/bioinformatics/bti486
Article
CAS
PubMed
Google Scholar
Ferrer-Costa C, Orozco M, de la Cruz X: Sequence-based prediction of pathological mutations. Proteins 2004, 57(4):811–819. 10.1002/prot.20252
Article
CAS
PubMed
Google Scholar
Wang Z, Moult J: Three-dimensional structural location and molecular functional effects of missense SNPs in the T cell receptor Vbeta domain. Proteins 2003, 53(3):748–757. 10.1002/prot.10522
Article
CAS
PubMed
Google Scholar
Ng PC, Henikoff S: SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Research 2003, 31(13):3812–3814. 10.1093/nar/gkg509
Article
PubMed Central
CAS
PubMed
Google Scholar
Ferrer-Costa C, Orozco M, de La: Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. Journal of Molecular Biology 2002, 315(4):771–786. 10.1006/jmbi.2001.5255
Article
CAS
PubMed
Google Scholar
Wang Z, Moult J: SNPs, protein structure, and disease. Human Mutation 2001, 17(4):263–270. 10.1002/humu.22
Article
PubMed
Google Scholar
Hurst JM, McMillan LEM, Porter CT, Allen J, Fakorede A, Martin ACR: SAAPdb web resource: a large scale structural analysis of mutant proteins. Human Mutation 2009, in press.
Google Scholar
Sayers EWW, Barrett T, Benson DAA, Bryant SHH, Canese K, Chetvernin V, Church DMM, Dicuccio M, Edgar R, Federhen S, Feolo M, Geer LYY, Helmberg W, Kapustin Y, Landsman D, Lipman DJJ, Madden TLL, Maglott DRR, Miller V, Mizrachi I, Ostell J, Pruitt KDD, Schuler GDD, Sequeira E, Sherry STT, Shumway M, Sirotkin K, Souvorov A, Starchenko G, Tatusova TAA, Wagner L, Yaschenko E, Ye J: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res 2009, 37(Database issue):D5-D15. 10.1093/nar/gkn741
Article
PubMed Central
CAS
PubMed
Google Scholar
Claustres M, Horaitis O, Vanevski M, Cotton RG: Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Research 2002, 12(5):680–688. 10.1101/gr.217702
Article
CAS
PubMed
Google Scholar
Greene LH, Lewis TE, Addou S, Cuff A, Dallman T, Dibley M, Redfern O, Pearl F, Nambudiry R, Reid A, Sillitoe I, Yeats C, Thornton JM, Orengo CA: The CATH domain structure database: new protocols and classification levels give a more comprehensive resource for exploring evolution. Nucleic Acids Research 2007, (35 Database):D291-D297. 10.1093/nar/gkl959
Google Scholar
Berman HM, Westbrook J, Feng Z, Gilliland G, Bhat TN, Weissig H, Shindyalov IN, Bourne PE: The Protein Data Bank. Nucleic Acids Research 2000, 28: 235–242. 10.1093/nar/28.1.235
Article
PubMed Central
CAS
PubMed
Google Scholar
Yeats C, Lees J, Reid A, Kellam P, Martin N, Liu X, Orengo C: Gene3D: comprehensive structural and functional annotation of genomes. Nucleic Acids Research 2008, (36 Database):D414-D418.
Google Scholar
Consortium U: The Universal Protein Resource (UniProt). Nucleic Acids Research 2007, (35 Database):D193-D197. 10.1093/nar/gkl929
Google Scholar
Altschul SF, Madden TL, Schäffer AA, Zhang J, Zhang Z, Miller W, Lipman DJ: Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Research 1997, 25(17):3389–3402. 10.1093/nar/25.17.3389
Article
PubMed Central
CAS
PubMed
Google Scholar
Edgar RC: MUSCLE: a multiple sequence alignment method with reduced time and space complexity. BMC Bioinformatics 2004, 5: 113. 10.1186/1471-2105-5-113
Article
PubMed Central
PubMed
Google Scholar
Laskowski RA, Chistyakov VV, Thornton JM: PDBsum more: new summaries and analyses of the known 3D structures of proteins and nucleic acids. Nucleic Acids Research 2005, (33 Database):D266-D268.
Google Scholar
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu LL, Myers LA, Spevak PJ, Cameron DE, De Backer JD, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AMD, Dietz HC: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics 2005, 37(3):275–281. 10.1038/ng1511
Article
CAS
PubMed
Google Scholar
Uzun A, Leslin CM, Abyzov A, Ilyin V: Structure SNP (StSNP): a web server for mapping and modeling nsSNPs on protein structures with linkage to metabolic pathways. Nucleic Acids Research 2007, 35: W384-W392. 10.1093/nar/gkm232
Article
PubMed Central
PubMed
Google Scholar
Izarzugaza JMG, Redfern OC, Orengo CA, Valencia A: Cancer associated mutations are preferentially distributed in protein kinase functional sites. 2009, in press.
Google Scholar
Izarzugaza JMG, Redfern OC, Orengo CA, Valencia A: Distribution of pathogenic mutations within the representative structures in the CATH hierarchy. 2009, in press.
Google Scholar
Piirilä H, Väliaho J, Vihinen M: Immunodeficiency mutation databases (IDbases). Human Mutation 2006, 27(12):1200–1208. 10.1002/humu.20405
Article
PubMed
Google Scholar
Kwok CJ, Martin ACR, Au SWN, Lam VMS: G6PDdb, an Integrated Database of Glucose-6-phosphate Dehydrogenase (G6PD) Mutations. Hum Mutat 2002, 19: 217–224. 10.1002/humu.10036
Article
CAS
PubMed
Google Scholar
Kemball-Cook G, Tuddenham E, Wacey A: The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucl Acids Res 1998, 26: 216–219. 10.1093/nar/26.1.216
Article
PubMed Central
CAS
PubMed
Google Scholar
Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M: Impact of Mutant p53 Functional Properties on TP53 Mutation Patterns and Tumor Phenotype: Lessons from Recent Developments in the IARC TP53 Database. Hum Mutat 2007, 28: 622–629. 10.1002/humu.20495
Article
CAS
PubMed
Google Scholar
Leigh SEA, Foster AH, Whittall RA, Hubbart CS, Humphries SE: Update and Analysis of the University College London low Density Lipoprotein Receptor Familial Hypercholesterolemia Database. Ann Hum Genet 2008, 72: 485–498. 10.1111/j.1469-1809.2008.00436.x
Article
CAS
PubMed
Google Scholar
Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG: Mutations and Polymorphisms in the Human Ornithine Transcarbamylase gene. Hum Mutat 2002, 19: 93–107. 10.1002/humu.10035
Article
CAS
PubMed
Google Scholar
Wroe R, Wai-Ling Butler A, Andersen PM, Powell JF, Al-Chalabi A: ALSOD: the Amyotrophic Lateral Sclerosis Online Database. Amyotroph Lateral Scler 2008, 9: 249–250. 10.1080/17482960802146106
Article
CAS
PubMed
Google Scholar
Yeats C, Lees J, Reid A, Kellam P, Martin N, Liu X, Orengo C: Gene3D: Comprehensive Structural and Functional Annotation of Genomes. Nucleic Acids Res 2008, 36: D414-D418. 10.1093/nar/gkm1019
Article
PubMed Central
CAS
PubMed
Google Scholar
Rattei T, Tischler P, Arnold R, Hamberger F, Krebs J, Krumsiek J, Wachinger B, Stümpen V, Mewes W: SIMAP-structuring the Network of Protein Similarities. Nucleic Acids Res 2008, 36: D289-D292. 10.1093/nar/gkm963
Article
PubMed Central
CAS
PubMed
Google Scholar