Amino acid changes

This tool annotates variants with amino acid changes given a track with coding regions and a reference sequence (see figure 26.50).

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Figure 26.50: The amino acid changes annotation tool.

The CDS track is used to determine the reading frame to be used for translation. The mRNA track is used to determine whether the variant is inside or outside the region covered by the transcript.

For each variant in the input track, the following information is added:

By filtering in the table view of the result track on the column "Non-synonymous" for "Yes", only variants that change the protein product will be retained in the result track.

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Figure 26.51: The resulting amino acid changes in track and table views.

An example of the output is given in Figure 26.51. The top track view displays the variant track, sequence track, gene annotation and CDS track. The lower table view is filtered for non-synonymous variants.