Effector residues selected for mutation are labelled, as are important interface residues of Pikp-HMA discussed in the text.
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).
The mutation is labeled in red.
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.
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.
Alignments were inspected for inactivating mutations, which were labelled according to their exon (e.g. 9A is the 5'-most mutation in exon 9, etc).
