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. 2024 Jan 4;111(1):96–118. doi: 10.1016/j.ajhg.2023.12.004

Figure 2.

Figure 2

Molecular modeling of PPFIA3 missense variants and protein levels associated with PPFIA3 variants

(A and B) PPFIA3 missense variants are modeled in PyMol (version 2.5.2) with GenBank: NP_003651.1. Human PPFIA3 WT residues are modeled in gray with coiled coils displayed in black and affected residues highlighted in orange. Local polar contacts (orange dashed lines) and residue interactions (highlighted in pink) are displayed before and after mutagenesis for (Bi) p.Arg415Trp, (Bii) p.Arg429Trp, (Ci) p.Arg784Trp, and (Cii) p.Ser906Leu.

(C) (i) Western blot from PPFIA3 WT and variants show higher levels of HA in PPFIA3 p.Arg39Cys compared to WT.

(ii) Quantification of relative HA in 4–6 sets of biological replicates show higher level of HA in PPFIA3 p.Arg39Cys flies. Statistical analysis conducted with one-way ANOVA and Tukey’s post-hoc analysis. Data shown as mean ± SEM. Significance shown as ∗∗∗p < 0.001. Non-significance shown as ns.