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