The exploration of amino acid variants co-occurring with post-translational modifications

The post-translational modifications (PTMs) regulate protein activity and play important roles in various kinds of biological processes. Therefore, it is not surprising that the alteration of PTMs leads to diseases. In this work, we investigate the associations between PTMs and diseases, specifically disease related mutations. In particular, the common PTMs, including phosphorylation, ubiquitylation and acetylation, are considered. By analyzing the PTM sites and the amino acid mutations, we find that some amino acid mutations co-occurring with PTM sites and PTM cross-talks tend to be deleterious mutations in diseases. These findings can help identify novel disease genes in the future.