Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of PLS3 in Patients with BMND18

Figure 2

Sequence conservation in the plastin-3 family. (a) Local view of the multiple sequence alignment of plastin-3 in the neighbourhood of Glu249 (red arrow). (b) Whole plastin-3 plot. Conservation is represented using Shannon entropy, a parameter routinely used for scoring pathogenic mutations, whose values range from 0 (complete conservation) to 4.32 (all amino acids are equiprobable at that position).