1. Variation datasets affecting protein tolerance

DATASET 3

This test dataset is extracted from the Protein Mutant Database (PMD). Amino acid substitutions annotated to affect protein activity were collected from the PMD. Variants with multiple conflicting annotations were discarded. The associated activity codes are given in the excel table. The activity code [=] was considered functional and all the others as non-functional. This dataset has 436 functional (neutral) variations and 347 non-functional variations in human sequences, 422 functional and 555 non-functional variations in non-human sequences.

Download: Test_Dataset_From_PMD

Reference: Olatubosun A, Väliaho J, Härkönen J, Thusberg J, Vihinen M. PON-P: Integrated predictor for pathogenicity of missense variants. Hum Mutat. 2012 Apr 13. doi: 10.1002/humu.22102.   PUBMED