TopoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association

被引:75
作者
Stitziel, NO
Binkowski, TA
Tseng, YY
Kasif, S
Liang, J
机构
[1] Univ Illinois, Dept Bioengn, Chicago, IL 60607 USA
[2] Boston Univ, Dept Biomed Engn, Boston, MA 02215 USA
关键词
D O I
10.1093/nar/gkh104
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The database of topographic mapping of Single Nucleotide Polymorphism (topoSNP) provides an online resource for analyzing non-synonymous SNPs (nsSNPs) that can be mapped onto known 3D structures of proteins. These include disease-associated nsSNPs derived from the Online Mendelian Inheritance in Man (OMIM) database and other nsSNPs derived from dbSNP, a resource at the National Center for Biotechnology information that catalogs SNPs. TopoSNP further classifies each nsSNP site into three categories based on their geometric location: those located in a surface pocket or an interior void of the protein, those on a convex region or a shallow depressed region, and those that are completely buried in the interior of the protein structure. These unique geometric descriptions provide more detailed mapping of nsSNPs to protein structures. The current release also includes relative entropy of SNPs calculated from multiple sequence alignment as obtained from the Pfam database (a database of protein families and conserved protein motifs) as well as manually adjusted multiple alignments obtained from ClustalW. These structural and conservational data can be useful for studying whether nsSNPs in coding regions are likely to lead to phenotypic changes. TopoSNP includes an interactive structural visualization web interface, as well as downloadable batch data. The database will be updated at regular intervals and can be accessed at: http:// gila.bioengr.uic.edu/snp/toposnp.
引用
收藏
页码:D520 / D522
页数:3
相关论文
共 16 条
[1]   Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation [J].
Chasman, D ;
Adams, RM .
JOURNAL OF MOLECULAR BIOLOGY, 2001, 307 (02) :683-706
[2]   MRBAYES: Bayesian inference of phylogenetic trees [J].
Huelsenbeck, JP ;
Ronquist, F .
BIOINFORMATICS, 2001, 17 (08) :754-755
[3]   IN-VITRO SPLICING DEFICIENCY INDUCED BY A C-TO-T MUTATION AT POSITION--3 IN THE INTRON-10 ACCEPTOR SITE OF THE PHENYLALANINE-HYDROXYLASE GENE IN A PATIENT WITH PHENYLKETONURIA [J].
JARUZELSKA, J ;
ABADIE, V ;
DAUBENTONCARAFA, Y ;
BRODY, E ;
MUNNICH, A ;
MARIE, J .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (35) :20370-20375
[4]   A comparison of profile hidden Markov model procedures for remote homology detection [J].
Madera, M ;
Gough, J .
NUCLEIC ACIDS RESEARCH, 2002, 30 (19) :4321-4328
[5]   SIFT: predicting amino acid changes that affect protein function [J].
Ng, PC ;
Henikoff, S .
NUCLEIC ACIDS RESEARCH, 2003, 31 (13) :3812-3814
[6]   Predicting deleterious amino acid substitutions [J].
Ng, PC ;
Henikoff, S .
GENOME RESEARCH, 2001, 11 (05) :863-874
[7]   Accounting for human polymorphisms predicted to affect protein function [J].
Ng, PC ;
Henikoff, S .
GENOME RESEARCH, 2002, 12 (03) :436-446
[8]   SYNTHESIS OF BETA-HEXOSAMINIDASE IN CELL-FREE TRANSLATION AND IN INTACT FIBROBLASTS - AN INSOLUBLE PRECURSOR ALPHA-CHAIN IN A RARE FORM OF TAY-SACHS DISEASE [J].
PROIA, RL ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (20) :6360-6364
[9]   Human non-synonymous SNPs: server and survey [J].
Ramensky, V ;
Bork, P ;
Sunyaev, S .
NUCLEIC ACIDS RESEARCH, 2002, 30 (17) :3894-3900
[10]   dbSNP: the NCBI database of genetic variation [J].
Sherry, ST ;
Ward, MH ;
Kholodov, M ;
Baker, J ;
Phan, L ;
Smigielski, EM ;
Sirotkin, K .
NUCLEIC ACIDS RESEARCH, 2001, 29 (01) :308-311