Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes

Figure 1

Structure of GNAO1 and the encoded proteins. (a) Overview of the GNAO1 locus (chr16: 56,190,000-56,360,000 hg38) containing GNAO1A and GNAO1B. (b) Alignment of the GNAO1 encoded human Gαo1 and Gαo2 protein sequences. The protein sequence before the start of the alignment (AA242) is shared by Gαo1 and Gαo2. AAs in the helical domain are shown in black, the linker region in red, and the GTPase region in blue. Indicated are the alpha helices and beta strands that were determined on the basis of the AlphaFold structure (A0A3Q1MSI3) and other important regions, whose positions were derived from Johnston et al. [8]. (c) Predicted structure of bovine Gαo1 by AlphaFold (A0A3Q1MSI3). The helical domain is dark gray, and the GTPase part is depicted in the colours for the per-residue confidence score (pLDDT) given by Alphafold. Blue (very high: ), cyan (high: ) and yellow (low: ).

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