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. 2023 Jul 13;14:4175. doi: 10.1038/s41467-023-39909-0

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — A Structure of HPRT1 shown as van der Walls surfaces with the predicted functional residues coloured in blue. Residues which contain at least one disease-causing variant are labelled and coloured according to which diseases it has been associated with (see legend). B Yeast-based assay for HPRT1 function. Yeast strains carrying a vector control, wild-type HPRT1 or one of the 17 HPRT1 variants all grow on medium containing guanine. In the presence of the inosine monophosphate dehydrogenase inhibitor mycophenolic acid (MPA), yeast cells cannot grow in the absence of a functional HPRT1 protein. C Assessment of protein abundance using western blots of the 6His-tagged HPRT1 variants. D Comparing predictions of the effects of the variants with the experimental measurements. Rosetta ΔΔG values are in units of kcal/mol. Panels B and C show representative results of three replicates. Source data for this figure are provided as a Source Data File.