FIGURE

Fig. 4

ID

ZDB-FIG-240828-41

Publication

Caetano da Silva et al., 2024 - Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis

Other Figures

All Figure Page

Back to All Figure Page

Fig. 4

AlphaMissense pathogenicity predictions for ESRP1 and ESRP2 missense variants.ESRP1 and ESRP2 gene variants from OFC cases in the GMFK Children’s dataset and ClinVar variants associated with cleft lip and/or palate or autosomal recessive deafness were identified. Six ESRP1 and nine ESRP2 (A), (D) missense variants were analyzed using the AlphaMissense (AM) model. The tables (C), (F) show the AM-predicted pathogenicity compared to our functional test results and the AM mutation score, which is also graphed. On the left, the ESRP1 and ESRP2 AlphaFold structures (B), (E), with labeled missense mutations, color-coded with the functional results.

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 @ Commun Biol