Fig. 3

HCAR3 frameshift mutation, c.1117delC (p.Q373Kfs*82). A Sanger sequencing comparisons of wildtype and mutant, illustrating the deletion of the cytosine. B Mutalyzer comparison of the HCAR3 wildtype and mutant proteins, highlighting the different C-termini in red. C Phyre2 protein prediction software displaying secondary structure differences between wildtype and mutant. D I-TASSER protein prediction comparisons of the wildtype and mutant protein (each in two different views) to show the C-terminus extension and difference in tertiary structures; PyMOL was used to display the molecular graphics