Skip to main content
Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Figure 1

OTC enzyme three dimensional structure mapping the new missense variants. A) 3D visualization of the new p.Arg40Leu mutation in the OTC monomer. B) Trimeric assembly of OTC enzyme indicating position 105 involved in the new p.Gly105Glu mutation. Constituent monomers are colored green, blue and magenta and position 105 is colored yellow in each of them.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172