Protein details/Single nucleotide variation

The Single Nucleotide Variation section of the Protein details page in GlyGen provides information on disease and non-disease associated mutations. These are most commonly nonsynonymous mutations which cause a different amino acid to be produced at a given position.

Single Nucleotide Variation

Single nucleotide variation is presented in 2 tabs on the Protein details page in GlyGen.

Disease associated Mutations

Screenshot of the Single Nucleotide Variation section on the Protein information page in GlyGen. This view contains two tabs one for disease associated information and the other for non-disease associated information.

This tab shows a list of mutations in the genetic sequence that are associated with a disease. The following columns are presented in the table:

• Source - GlyGen evidence linking to the databases and papers that provided the glycosylation information
• Filter annotations - Pass/fail filter results from mapping cancer terms to Disease Ontology ID.  Eg. Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)
• Genomic locus - The genomic position of the reported mutation. Eg. Chr7:81399287
• Start Pos. - Start position of the site in the amino acid sequence. Eg. 1
• End Pos. - End position of the site in the amino acid sequence. Eg. 1
• Sequence - Reference or wild-type amino acid residue change resulting from variation. Eg. M→ L
• Disease - DOID and term corresponding to reported disease. Eg. thyroid gland cancer (DOID:1781)
• MAF - The frequency at which the second most common allele occurs in a given population.

Non-disease associated Mutations

This tab shows a list of mutations in the genetic sequence that are not associated with a disease. The following columns are presented in the table:

• Source - GlyGen evidence linking to the databases and papers that provided the glycosylation information
• Filter annotations -
• Genomic locus -
• Start Pos. -
• End Pos. -
• Sequence -
• MAF -