| | |  | | | | Record from Web of Science® | | | | | | |
| Human non-synonymous SNPs: server and survey |
|
|
| Author(s): Ramensky V, Bork P, Sunyaev S |
| Source: NUCLEIC ACIDS RESEARCH Volume: 30 Issue: 17 Pages: 3894-3900 Published: SEP 1 2002 |
| Times Cited: 512 References: 37 |
| Abstract: Human single nucleotide polymorphisms (SNPs) represent the most frequent type of human population DNA variation. One of the main goals of SNP research is to understand the genetics of the human phenotype variation and especially the genetic basis of human complex diseases. Non-synonymous coding SNPs (nsSNPs) comprise a group of SNPs that, together with SNPs in regulatory regions, are believed to have the highest impact on phenotype. Here we present a World Wide Web server to predict the effect of an nsSNP on protein structure and function. The prediction method enabled analysis of the publicly available SNP database HGVbase, which gave rise to a dataset of nsSNPs with predicted functionality. The dataset was further used to compare the effect of various structural and functional characteristics of amino acid substitutions responsible for phenotypic display of nsSNPs. We also studied the dependence of selective pressure on the structural and functional properties of proteins. We found that in our dataset the selection pressure against deleterious SNPs depends on the molecular function of the protein, although it is insensitive to several other protein features considered. The strongest selective pressure was detected for proteins involved in transcription regulation. |
| Document Type: Article |
| Language: English |
| Reprint Address: Sunyaev, S (reprint author), Brigham & Womens Hosp, Dept Med, Div Genet, 75 Francis St, Boston, MA 02115 USA |
Addresses:
1. European Mol Biol Lab, D-69117 Heidelberg, Germany
2. Max Delbruck Ctr Mol Med, D-13122 Berlin, Germany
3. VA Engelhardt Mol Biol Inst, Moscow 119991, Russia |
| Publisher: OXFORD UNIV PRESS, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND |
| Subject Category: Biochemistry & Molecular Biology |
| IDS Number: 593NK |
| ISSN: 0305-1048 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |