Amino Acid Changes in Disease-Associated Variants Differ Radically from Variants Observed in the 1000 Genomes Project Dataset
Figure 6
Comparison of the conservation scores in the four sets used.
The density distribution of residue conservation scores for all the amino acid positions in UniProt (9,532,474 residues, black), 1 kG (185,428 residues, blue), OMIM (8,099 residues, red) and Humsavar (21,446 residues, green). The conservation scores range from 0 for non-conserved residues to 1 for highly conserved residues.