Fig. 1: Structural mapping of PSMC5 variants highlights clustering within the AAA⁺ ATPase domain. | Nature Communications

Fig. 1: Structural mapping of PSMC5 variants highlights clustering within the AAA⁺ ATPase domain.

From: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Fig. 1: Structural mapping of PSMC5 variants highlights clustering within the AAA⁺ ATPase domain.The alternative text for this image may have been generated using AI.

a Schematic of the PSMC5/RPT6 protein showing 26 variants identified in NDD patients. Approximately half cluster within three hotspot regions of the AAA⁺ ATPase domain. Missense variants are shown in blue, frameshift/indels in red, and splice site variants in purple. Numbers indicate the count of unrelated individuals carrying each variant. b Structural localization of PSMC5 variants within the 26S proteasome (based on PDB: 6MSK). Variants (spheres) are primarily situated in the lower ATPase domain of RPT6. Portions of the complex were hidden to enhance visibility; RPT6 is shown in cartoon representation.

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