FIGURE

Fig. 2

ID

ZDB-FIG-240304-7

Publication

Stegmann et al., 2024 - Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

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Fig. 2

Structural modeling of CELSR3 and mapping of the variants.

Structural modeling of CELSR3 and the respective variants according to the amino acid (aa) position. Left panel: 3D protein domain view and variant annotation using AlphaFold and PyMOL. Middle panel: Linearized aa view of the protein domains. Right panels: Variant location according to the respective phenotype categories: Central nervous system (CNS) anomalies in blue, combined CNS and congenital anomalies of the kidneys and urinary tract (CAKUT) in green, CAKUT only in yellow. Cad Cadherin, EGF Epidermal growth factor, GAIN G-protein-coupled receptor (GPCR) autoproteolysis-inducing domain, GPS GPCR proteolysis site, 7TM Seven-transmembrane.

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 @ NPJ Genom Med