Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation
Fig 2
Sequence and structural analysis of ALPL mutations in the TNSALP protein.
(A) The composition and statistics of ALPL mutations of based on the three categories: mild HPP, severe HPP, and control group. (B) The conservation distribution of mutations related to different phenotypes. (C) The structure of the TNSALP protein and the distribution of mutation sites in the active site (red), calcium site (purple), crown domain (brown), dimeric interface (blue), and N-terminal domain (green). Missense mutations in the three groups are shown as colored spheres based on the coloring scheme of the domains to which they belong. (D) Distribution of different clinical phenotypic mutations across the length of the TNSALP protein.