Literature DB >> 15613399

Mapping SNPs to protein sequence and structure data.

A Cavallo1, A C R Martin.   

Abstract

MOTIVATION: Data on both single nucleotide polymorphisms and disease-related mutations are being collected at ever-increasing rates. To understand the structural effects of missense mutations, we consider both classes under the term single amino acid polymorphisms (SAAPs) and we wish to map these to protein structure where their effects can be analyzed. Our initial aim therefore is to create a completely automatically maintained database of SAAPs mapped to individual residues in the Protein Data Bank (PDB) updated as new mutations or structures become available.
RESULTS: We present an integrated pipeline for the automated mapping of SAAP data from HGVbase to individual PDB residues. Achieving this in a completely automated and reliable manner is a complex task. Data extracted from HGVbase are mapped to EMBL entries to confirm whether the mutation occurs in an exon and, if so, where in the sequence it occurs. From there we map to Swiss-Prot entries and thence to the PDB. AVAILABILITY: The resulting database may be accessed over the web at http://www.bioinf.org.uk/saap/ or http://acrmwww.biochem.ucl.ac.uk/saap/ CONTACT: a.martin@biochem.ucl.ac.uk.

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Year:  2004        PMID: 15613399     DOI: 10.1093/bioinformatics/bti220

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


  20 in total

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Review 4.  Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases.

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Review 5.  Applications of computational algorithm tools to identify functional SNPs.

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Review 7.  Proteogenomics: Integrating Next-Generation Sequencing and Mass Spectrometry to Characterize Human Proteomic Variation.

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8.  Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation.

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9.  Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

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Journal:  J Biomed Sci       Date:  2009-04-24       Impact factor: 8.410

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

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