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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant

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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172