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Figure 6.
Figure 6. Residues whose mutation causes E3 deficiency.
Stereo representations of disease-causing mutations that occur
(a) at the homodimer interface, (b) near to the
disulfide-exchange site, or (c) near to the bound FAD or NADH
molecules. The coordinates represented here come from the G
(blue) and H (tan) monomers of hE3-Lip-NADH. Mutation to V188 is
not known to cause disease; it is included to show its proximity
to I358. The section of electron density in (b) is a 2F[o] -F[c]
map contoured at the 1s level. In (b), the N3 atom of FAD is
labeled. Secondary structure is shown semi-transparently to
allow all atoms to be viewed. Atoms and secondary structural
features are colored as in Figure 2 and Figure 3.
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