Between proteins and phenotypes: annotation and interpretation of mutations

Christopher Jo Baker,Dietrich Rebholz-Schuhmann

doi:10.1186/1471-2105-10-s8-i1

Christopher Jo Baker, Dietrich Rebholz-Schuhmann

Open Access

https://doi.org/10.1186/1471-2105-10-s8-i1

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Abstract

Between proteins and phenotypes: annotation and interpretation of mutations

Highlights

Understanding the roles of genes and proteins and the functional consequences of their mutation is mandatory for the interpretation of a resulting phenotype, for example the observed disease state
Large-scale resources able to cope with the full extent of data and annotations reporting on human variability have yet to be built [4]. Systems maintaining this data will have to deal with a number of problems: (i) extraction, storage and reuse of genotypephenotype information [5,6], (ii) preparation of semantic resources for phenotype description [7,23], and (iii) automated interpretation, simulation and prediction of functional changes induced by mutations and sequence variants [8]
The presented research is mainly concerned with the impact of mutations on protein stability and protein function and includes reports on attempts to predict the relevance of a protein's modifications in the context of the disease under investigation

Summary

Introduction

Understanding the roles of genes and proteins and the functional consequences of their mutation is mandatory for the interpretation of a resulting phenotype, for example the observed disease state. Individual research projects investigate the consequences of natural and experimental mutations in proteins by analysing stability and the resulting changes to a protein's function [1].

Results

Conclusion