FIGURE

Fig. 2

ID

ZDB-FIG-200205-15

Publication

Hengel et al., 2020 - Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

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Fig. 2

Mutations in UGDH enzyme possibly affect critical amino-acids.

aUGDH genomic and protein domain structures. Type and positions of 22 germline UGDH mutations. 5′ and 3′ UTRs are shown in dark gray. NAD-binding (blue), central (pink), and UDP-binding (orange) domains are highlighted. Homozygous mutations are shown in bold. Compound heterozygous mutations that are in trans are linked by a line below the UGDH domain structure. b–d Three close-up views ribbon diagrams of the UGDH protein bound to UDP-Glc and NADH. b Interface between the central domains of subunits A and B. c NAD-binding site in NAD-binding domain of subunit A. Distances between NADH and mutated residues in patients are measured in Angström (Å). d Interface between the subunit A NAD-binding domain with the subunit C UDP-Glc-binding domain. In all the structures, residues carrying missense mutations in the patients are highlighted as 3D backbone. Residues Q110 and T325 known to interact together for dimer formation¹⁵; and residue V132, which is important for hexamerization¹⁵ are highlighted in black backbone. In all the structures, NAD-binding (blue), central (light/dark pink), and UDP-binding (orange) domains are shown. UDP-Glc (dark red) and NADH (midnight blue) are represented as colored carbon backbones. Adapted from PDB code 2Q3E⁶ using the Swiss-Pdb Viewer software⁶⁷. For gels and graphs source data, please refer to the source data files 1 and 2.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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