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
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].
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