Detection and Analysis of Disease-Associated Single Nucleotide Polymorphism Influencing Post-Translational Modification

BMC Med Genomics. 2015;8 Suppl 2(Suppl 2):S7. doi: 10.1186/1755-8794-8-S2-S7. Epub 2015 May 29.


Post-translational modification (PTM) plays a crucial role in biological functions and corresponding disease developments. Discovering disease-associated non-synonymous SNPs (nsSNPs) altering PTM sites can help to estimate the various PTM candidates involved in diseases, therefore, an integrated analysis between SNPs, PTMs and diseases is necessary. However, only a few types of PTMs affected by nsSNPs have been studied without considering disease-association until now. In this study, we developed a new database called PTM-SNP which contains a comprehensive collection of human nsSNPs that affect PTM sites, together with disease information. Total 179,325 PTM-SNPs were collected by aligning missense SNPs and stop-gain SNPs on PTM sites (position 0) or their flanking region (position -7 to 7). Disease-associated SNPs from GWAS catalogs were also matched with detected PTM-SNP to find disease associated PTM-SNPs. Our result shows PTM-SNPs are highly associated with diseases, compared with other nsSNP sites and functional classes including near gene, intron and so on. PTM-SNP can provide an insight about discovering important PTMs involved in the diseases easily through the web site. PTM-SNP is freely available at

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Diabetes Mellitus, Type 2 / genetics
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Internet
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Processing, Post-Translational / genetics*
  • Statistics as Topic