Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations.

ABSTRACT:

Background

Linking structural effects of mutations to functional outcomes is a major issue in structural bioinformatics, and many tools and studies have shown that specific structural properties such as stability and residue burial can be used to distinguish neutral variations and disease associated mutations.

Results

We have investigated 39 structural properties on a set of SNPs and disease mutations from the Uniprot Knowledge Base that could be mapped on high quality crystal structures and show that none of these properties can be used as a sole classification criterion to separate the two data sets. Furthermore, we have reviewed the annotation process from mutation to result and identified the liabilities in each step.

Conclusion

Although excellent annotation resul

SUBMITTER: Reumers J 

PROVIDER: S-EPMC2745591 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature