Fig. 7: A deep mutational scan defines the functional landscape of THAP1 mutations. | Nature Communications

Fig. 7: A deep mutational scan defines the functional landscape of THAP1 mutations.

From: Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression

Fig. 7

A Schematic representation of the domain architecture of the THAP1 protein. B Schematic representation of the deep mutational scan, designed to interrogate the ability of all possible single amino acid variants of THAP1 to activate expression of the endogenous PPSMB5-GFP knock-in allele. Created in BioRender. Timms, R. (2025) https://BioRender.com/ x85w665. C Site-saturation mutagenesis reveals critical residues for THAP1 function. Each cell represents the performance of a single THAP1 mutant: the mean performance of all the wild-type proteins is centered at 1 (light gray), with red colors indicating mutants which abrogate activation of the PPSMB5-GFP reporter and blue colors indicating mutants which may enhance the activation of the PPSMB5-GFP reporter. Dark gray cells indicate mutants for which insufficient data was available for analysis.

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