Figure 3. Ataxia-related variants in STUB1.

(A) STUB1 gene showing reported variants associated with autosomal dominant and recessive ataxias and the corresponding locations in the protein. Colors indicate the TPR (turquoise), coiled-coil (purple), and E3 ubiquitin ligase (U-box) domains in STUB1. Bold = heterozygous autosomal dominant variants reported by Genis et al⁵ and De Michele et al⁶ and in this report (in red). Arrow = an intronic mutation at the donor splice site of exon 4. (B) Diagram depicts the location of the p.Ile53Thr (red amino acid) and p.Phe37Leu (yellow amino acid) missense variants within a 3-D model of a STUB1 homodimer (the functional isoform). STUB1 was modeled with PyMOL (pymol.org) using the data from the protein data bank (rcsb.org, PDB ID#2C2L). TPR = tetratricopeptide repeat.