SNPdbe

Most single amino acid substitutions (SAASs) lack experimental annotation of their functional impact. SNPdbe is a database and a webinterface that is designed to fill the annotation gap left by the high cost of experimental testing for functional significance of protein variants. It joins related bits of knowledge, currently distributed throughout various databases, into a consistent, easily accessible, and updatable resource. We currently cover over 155,000 protein sequences which come from more than 2,600 organisms. Overall we reference more than one million SAASs consisting of natural variants, SAASs from mutagenesis experiments and sequencing conflicts. For more details, please refer to our statistics overview.

SNPdbe offers the following pieces of information (if available) on each SAAS:

  • Experimentally derived functional and structural impact
  • Predicted functional effect
  • Associated disease
  • Average heterozygosity
  • Experimental evidence of the nsSNP
  • Evolutionary conservation of wildtype and mutant amino acid
  • Link-outs to external databases

We offer a convenient interface to query SAASs on the following levels:

  • Protein and gene identifiers and keywords
  • Disease keywords
  • Protein sequence on different sequence identity thresholds
  • Variant identifier (dbSNP rs, SwissVar, PMD) or specific mutant like XposY and specified sequence