Protein Variations

Example page

This view shows all small sequence variations for one isoform (ENSP). The following columns are presented:

  • Residue - Position of the variation within the protein (amino acid number).
  • Variant ID - This is the dbSNP identifier, when possible. Click an ID to view more information about that variant.
  • Conseq. Type - SO consequence terms, click here for descriptions.
  • Source - Original database/project from which the variation was imported.
  • Evidence Data that support a variant and suggest how reliable the variant is. A summary of evidence status is available on our documentation on Variation data.
  • Alleles - Possible alleles in the nucleotide sequence.
  • Ambig. code - The IUPAC code for the possible alleles at this position. For a table, see this help page.
  • Residues - Amino acid(s) found at this position. In the case of a non-synonymous variant, more than one amino acid will be listed.
  • Codons - Position of the variation within a codon is shown by indicating the nucleotide in bold.
  • SIFT - Prediction of variation effect on protein function by SIFT
  • PolyPhen-2 - Prediction of variation effect on protein function by PolyPhen-2
  • CADD  - Prediction of variant effect on protein function by CADD
  • REVEL  - Prediction of variant effect on protein function by REVEL
  • MetaLR  - Prediction of variant effect on protein function by MetaLR
  • MutationAssessor  - Prediction of variant effect on protein function by MutationAssessor