HGMD users should not assume that just because a mutation is labelled "DM", that it automatically follows that the mutation is known or believed to be pathogenic in all individuals harbouring it (i.e. that the mutation exhibits 100%% penetrance).
HBB gene fragment containing −28 (A>G) mutation was labeled with green box.
Each mutation was labeled as deleterious, activating, or neutral based on keyword recognition within only the first two words of the text description to prevent complications with exceptionally verbose phenotype descriptions.
HBB −28 (A>G) mutation were labelled with red arrowhead.
Effector residues selected for mutation are labelled, as are important interface residues of Pikp-HMA discussed in the text.
Top: Human pathogenic VCP mutations are labeled on the cartoon.
In this study, driver mutations are labeled as positive class and passenger mutations are labeled as negative class.
Secondary structural features with activating mutations are labeled with yellow circles (NT, N-termini; CT, C-termini).
Third, I do not understand why in Figure 3 mutations are labeled with no changes for V45V, D173D, R164R, and L171L.
Mutation G283P is labeled in red.
