FIGURE

Figure 1

ID

ZDB-FIG-220816-40

Publication

Sertori et al., 2022 - Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency

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Figure 1

Identification of the MED14 missense mutation by next generation sequencing. (A) Screen shots of NGS sequencing runs of the proband and parents are depicted. The A>G mutation is indicated by upper and lower case G. Dots or commas indicate wild type sequence. (B) Molecular models of the wild type and variant MED14 proteins. Two views of wild type (orange) and V763A mutant (green) human MED14 are depicted. The right half of each panel shows a zoomed in view of aa 763 with nearby residues on the opposing helix that are capable of making contacts with the A or V763. The left panel shows wild type MED14 V763 from known PDB structure 7ENA chain n, residues 637 to 884. The right panel shows the human V763A MED14 variant. Hydrophobic contacts are shown with purple lines.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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