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Contains a comprehensive collection of human non-synonymous SNPs (nsSNPs) that affect post-translational modification (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.

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  • Gwan-Su Yi <tckcy at kaist.ac.kr>


Department of Bio and Brain Engineering, KAIST, Daejeon, South Korea

  • (Kim et al., 2015) Detection and analysis of disease-associated single nucleotide polymorphism influencing post-translational modification. BMC medical genomics.
    PMID: 26043787
  • Animals
    • Homo sapiens
  • (Johnston and Biesecker, 2013) Databases of genomic variation and phenotypes: existing resources and future needs. Human molecular genetics.
    PMID: 23962721

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