Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Tóm tắt
Từ khóa
Tài liệu tham khảo
Krawczak, M. et al. Human gene mutation database-a biomedical information and research resource. Hum. Mutat. 15, 45–51 (2000).
Henikoff, S. & Comai, L. Single-nucleotide mutations for plant functional genomics. Annu. Rev. Plant. Biol. 54, 375–401 (2003).
Ng, P.C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863–874 (2001).
Tchernitchko, D., Goossens, M. & Wajcman, H. In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics. Clin. Chem. 50, 1974–8 (2004).
Ng, P.C. & Henikoff, S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 12, 436–446 (2002).
Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389–3402 (1997).
Ng, P.C. & Henikoff, S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812–3814 (2003).
Saunders, C.T. & Baker, D. Evaluation of structural and evolutionary contributions to deleterious mutation prediction. J. Mol. Biol. 322, 891–901 (2002).
Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231–238 (1999).
Palmer, J.S. et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am. J. Hum. Genet. 66, 176–186 (2000).
Ng, P.C. & Henikoff, S. Predicting the effects of amino acid substitutions on protein function. Annu. Rev. Genom. 7, 61–80 (2006).
Ramensky, V., Bork, P. & Sunyaev, S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 30, 3894–3900 (2002).
Ferrer-Costa, C. et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21, 3176–3178 (2005).
Stone, E.A. & Sidow, A. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res. 15, 978–986 (2005).
Mathe, E. Computational approaches for predicting the biological effect of p53 missense mutation: a comparison of three sequence analysis based methods. Nucleic Acids Res. 34, 1317–1325 (2006).
Healy, E. et al. Skin type, melanoma, and melanocortin 1 receptor variants. J. Invest. Dermatol. 112, 512–513 (1999).
Liu, W. et al. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorder. Genet. Test. 1, 237–242 (1997/1998).
Yue, P.E., Melamud, M. & Moult, J. SNPs3D: Candidate gene and SNP selection for association studies. BMC Bioinformatics 7, 166 (2006).