Extended Data Fig. 10: Mapping of disease related missense mutations onto the structure of EXT1 and EXT2.
From: Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex
Mutations in the EXT1 and EXT2 coding regions that lead to disease were identified in the Human Gene Mutation Database30 and are shown on the linear representations of the respective protein sequences as colored circles (c and d) and as cyan spheres on the structural representation of EXT1 (a) and EXT2 (b). EXT1-2 are colored the same as Fig. 1. Disease characteristics shown in the legend are based on the annotations for the respective mutations in the Human Gene Mutation Database.
