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Figure 9.
Molecular basis of late infantile neuronal ceroid
lipofuscinosis. A, view from the top of the cartoon model in
Fig. 3D and rotated. The currently known pathogenic TPP1
missense mutations are mapped onto the TPP1 structure as labeled
spheres and are colored according to their impact on the TPP1
structure. Red colored spheres point to mutations compromising
the catalytic activity; blue colored spheres indicate
conformational destabilization, and gray colored spheres
designate unclear structural consequences. The Asn^286 residue
(turquoise) corresponds to one of the five N-glycosylation
sites. B, view of the catalytic cleft of the cartoon model in
Fig. 3D. TPP1 missense mutations are shown as stick models,
coloring scheme corresponds to A, except for mutations with
unclear effect that are colored in green.
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