Fig. 2

Schematic presentation of RNASET2 gene and location of the reported mutations.1–9: exons; Red boxes: catalytic active sites (CAS I and CAS II) (a). Schematic presentation of RNASET2 protein. Green box: signal peptide; purple boxes: functional domains; white boxes: N- glycosilation site (b). Sequence chromatogram showing homozygote and heterozygote state of c.233C > A mutation in RNASET2 (NM_ 003730.4) in the parents and affected girl