Skip to main content
. Author manuscript; available in PMC: 2023 Nov 30.
Published in final edited form as: Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189

Fig. 1: Distribution of the de novo heterozygous PSMC3/Rpt5 variants identified in patients.

Fig. 1:

Shown are the locations of the fifteen NDD-causing missense variants (indicated in red) along the PSMC3/Rpt5 protein. The AAA-ATPase domain of the PSMC3/Rpt5 proteasome subunit of the 19S regulatory particle is depicted in blue. Pink circles indicate the presence of variants hotspots. Shown is also a sequence alignment of regions immediately adjacent to the amino acids subjected to missense substitutions. Comparison of the PSMC3/Rpt5 primary structure across six eukaryotic organisms indicates the high conservation of the missense variant residues identified in NDD/ID patients which are highlighted by red boxes.