Figure S1.
![Structural analysis of the P44L mutation in the USB1 protein. (A) The de novo variant is situated within the only modeled ternary structure of the N-terminal domain, which is predicted to be predominantly disordered (AF-Q9BQ65-F1-v4, AlphaFold Protein Structure Database [10, 11, 12]). (B) Comparison of the local structural environment around residue 44 in the wild-type (USB1WT) and mutant (USB1P44L) proteins. The model was visualized using the PyMOL Molecular Graphics System (Version 3.1.0 Schrödinger, LLC).](https://cdn.rupress.org/rup/content_public/journal/jhi/1/4/10.70962_jhi.20250110/1/jhi_20250110_figs1.png?Expires=1768405427&Signature=AUXTClZJ6FTZgpfvEwcU~Ng6QLSaMoyyXpdF3K0Oyzq6o9PHpcAjcmI918GYvTRX5n6~UV9iF3QUcSjGiMZhtjxf334E6u9RxvDWqXYbzpyOSetRywd9~fYln75Mh47Y-ji2gy41DKCUmJwEqPD2E~TjAt1DWeWMLJuuZJvJ0YsZugfydmrWiEQV5B~k5Bwv6-2Kc5FvX7iJ6IrxAZAB8CteS1EpKCKtOXDbb~R0-x5Mtx~lhHA3OPb1-LgHdJmthKWIXCkXygj7P8NQ9c0LjMb~vJbDtKWISRdiCCGQIKf1XqzWjcmd5IrnFg-uUHF67uBUdUWOxaSZx2GMdi~XaQ__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA)
Structural analysis of the P44L mutation in the USB1 protein. (A) The de novo variant is situated within the only modeled ternary structure of the N-terminal domain, which is predicted to be predominantly disordered (AF-Q9BQ65-F1-v4, AlphaFold Protein Structure Database [10, 11, 12]). (B) Comparison of the local structural environment around residue 44 in the wild-type (USB1WT) and mutant (USB1P44L) proteins. The model was visualized using the PyMOL Molecular Graphics System (Version 3.1.0 Schrödinger, LLC).