Figure 5. Mutation analysis by CONSURF. A: Functional effects of missense mutations observed in our patients (indicated with asterisks, positions 237, 302, 320, and 395) and in published reports (positions 176, 309, and 599), predicted using our set of putative orthologs obtained by BLAST of NCBI genomic databases and syntenic alignment. B: Functional effects of missense mutations observed in our patients and in published reports, predicted in comparison to a set of approximately 90 functionally annotated proteins containing Tryp-SPc protease domains. Mutations at positions 395 and 599 are not accessible to comparison using the set of protease domain-containing genes.