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Fig. 2 | Human Genomics

Fig. 2

From: A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish

Fig. 2

Structure homology-modeling of the normal human UBE2H and T150M variant. By means of in silico protein structure modeling, wild-type and mutant residues (p.Thr150Met) in the UBE2H protein have been represented as sticks alongside the surrounding residues. The Thr150 residue is located in the UBC core domain away from the active site. The crystal structure of the domain from wild-type UBE2H was generated using SWISS-MODEL (https://swissmodel.expasy.org/) and has been depicted as a cartoon representation

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Human Genomics

ISSN: 1479-7364