Disease-related mutations predicted to impact protein function.

ABSTRACT:

Background

Non-synonymous single nucleotide polymorphisms (nsSNPs) alter the protein sequence and can cause disease. The impact has been described by reliable experiments for relatively few mutations. Here, we study predictions for functional impact of disease-annotated mutations from OMIM, PMD and Swiss-Prot and of variants not linked to disease.

Results

Most disease-causing mutations were predicted to impact protein function. More surprisingly, the raw predictions scores for disease-causing mutations were higher than the scores for the function-altering data set originally used for developing the prediction method (here SNAP). We might expect that diseases are caused by change-of-function mutations. However, it is surprising how well prediction methods developed for differ

SUBMITTER: Schaefer C 

PROVIDER: S-EPMC3394413 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature