Literature DB >> 16809394

SNPeffect v2.0: a new step in investigating the molecular phenotypic effects of human non-synonymous SNPs.

Joke Reumers1, Sebastian Maurer-Stroh, Joost Schymkowitz, Frederic Rousseau.   

Abstract

UNLABELLED: Single nucleotide polymorphisms (SNPs) constitute the most fundamental type of genetic variation in human populations. About 75 000 of these reported variations cause an amino acid change in the translated protein. An important goal in genomic research is to understand how this variability affects protein function, and whether or not particular SNPs are associated to disease susceptibility. Accordingly, the SNPeffect database uses sequence- and structure-based bioinformatics tools to predict the effect of non-synonymous SNPs on the molecular phenotype of proteins. SNPeffect analyses the effect of SNPs on three categories of functional properties: (1) structural and thermodynamic properties affecting protein dynamics and stability (2) the integrity of functional and binding sites and (3) changes in posttranslational processing and cellular localization of proteins. The search interface of the database can be used to search specifically for polymorphisms that are predicted to cause a change in one of these properties. Now based on the Ensembl human databases, the SNPeffect database has been remodeled to better fit an automatically updatable structure. The current edition holds the molecular phenotype of 74 567 nsSNPs in 23 426 proteins. AVAILABILITY: SNPeffect can be accessed through http://snpeffect.vib.be.

Entities:  

Mesh:

Year:  2006        PMID: 16809394     DOI: 10.1093/bioinformatics/btl348

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  40 in total

1.  Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

Authors:  Rajith B; George Priya Doss C
Journal:  PLoS One       Date:  2011-09-13       Impact factor: 3.240

Review 2.  Pharmacogenetics of drug metabolizing enzymes and transporters: effects on pharmacokinetics and pharmacodynamics of anticancer agents.

Authors:  Norman H Lee
Journal:  Anticancer Agents Med Chem       Date:  2010-10-01       Impact factor: 2.505

3.  Next generation tools for the annotation of human SNPs.

Authors:  Rachel Karchin
Journal:  Brief Bioinform       Date:  2009-01       Impact factor: 11.622

4.  A novel computational and structural analysis of nsSNPs in CFTR gene.

Authors:  C George Priya Doss; R Rajasekaran; C Sudandiradoss; K Ramanathan; R Purohit; R Sethumadhavan
Journal:  Genomic Med       Date:  2008-05-14

5.  Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.

Authors:  Iftikhar J Kullo; Keyue Ding; Khader Shameer; Catherine A McCarty; Gail P Jarvik; Joshua C Denny; Marylyn D Ritchie; Zi Ye; David R Crosslin; Rex L Chisholm; Teri A Manolio; Christopher G Chute
Journal:  Am J Hum Genet       Date:  2011-06-23       Impact factor: 11.025

6.  Meet me halfway: when genomics meets structural bioinformatics.

Authors:  Sungsam Gong; Catherine L Worth; Tammy M K Cheng; Tom L Blundell
Journal:  J Cardiovasc Transl Res       Date:  2011-02-25       Impact factor: 4.132

7.  Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

Authors:  Abel González-Pérez; Nuria López-Bigas
Journal:  Am J Hum Genet       Date:  2011-03-31       Impact factor: 11.025

Review 8.  Applications of computational algorithm tools to identify functional SNPs.

Authors:  C George Priya Doss; C Sudandiradoss; R Rajasekaran; Parikshit Choudhury; Priyanka Sinha; Pragnya Hota; Udit Prakash Batra; Sethumadhavan Rao
Journal:  Funct Integr Genomics       Date:  2008-06-19       Impact factor: 3.410

9.  Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study.

Authors:  Holger Kirsten; Elisabeth Petit-Teixeira; Markus Scholz; Dirk Hasenclever; Helene Hantmann; Dirk Heider; Ulf Wagner; Ulrich Sack; Vitor Hugo Teixeira; Bernard Prum; Jana Burkhardt; Céline Pierlot; Frank Emmrich; François Cornelis; Peter Ahnert
Journal:  Arthritis Res Ther       Date:  2009-05-01       Impact factor: 5.156

10.  From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways.

Authors:  Anna Bauer-Mehren; Laura I Furlong; Michael Rautschka; Ferran Sanz
Journal:  BMC Bioinformatics       Date:  2009-08-27       Impact factor: 3.169

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.