Amino acid changes

This tool annotates variants with amino acid changes given a track with coding regions and a reference sequence (see figure 26.28).

Image refiner-aminoacid
Figure 26.28: The amino acid changes annotation tool.

The result is a new track where each variant has information about the effect on the amino acid sequence of the corresponding protein. The nomenclature used for reporting is taken from http://www.hgvs.org/mutnomen/. Furthermore, you can select whether to filter away synonymous variants so that only variants that change the protein product will be retained in the result track.