FIGURE

Figure 1

ID

ZDB-FIG-221226-190

Publication

Vaz et al., 2022 - A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Other Figures

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Figure 1

(A) Genome analysis revealed a de novo variant in PDK1. Whole genome sequencing showed a c.1139G > A (p.G380D) variant in exon 11 of PDK1 (*) in heterozygosity (arrow). Sanger sequencing of the parents and the proband confirmed it was a de novo variant. (B) Partial amino acid sequence alignment including the amino acid affected by the variant (*) shows conservation between human and zebrafish.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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