FIGURE

Fig. 2

ID

ZDB-FIG-230831-14

Publication

Jackson et al., 2023 - Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Other Figures

All Figure Page

Back to All Figure Page

Fig. 2

In silico protein modeling of pathogenic/likely pathogenic non-truncating TSPEAR variants

(A) Left shows the AlphaFold-predicted structure of TSPEAR with all missense/in-frame indels plotted; note the propensity for these to affect the β-propeller. Right shows the surface of the predicted TSPEAR structure showing overall charge. Note the pocket of negative charge (red) within the inner surface of the β-propeller. Conservation scores are shown below mapped to the predicted structure surface showing conservation of the residues (purple) within the inner surface of the β-propeller.

(B) Molecular models for all missense/in-frame indels in this study produced by Modeller 9.24. Steric clashes are shown by red discs. Yellow dotted lines indicated interacting residues.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ HGG Adv