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

Figure 3

Enumeration of pathogenic and likely pathogenic GNAO1A germline variants. (a) Distribution of (likely) pathogenic GNAO1 variants across Gαo1 that have been found in 282 GNAO1 patients. Variants are either (likely) pathogenic variants or variants provoking a typical GNAO1 phenotype. If additional, indisputably unique, patients (submissions) were found in ClinVar these were included as well. Indicated functional Gαo domains were derived from [8]. Mutation hotspots are indicated by dotted lines. (b) Number and frequency of GNAO1A variants in mutation hotspots that are caused by either CpG deamination (red bar) or other mutation routes (gray bar).

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