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![[Figure 7]](cb5050fig7mag.jpg)
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Figure 7
Stereo figure showing missense mutations mapped onto the structure of the SGSH monomer. Cα atoms of residues associated with an early-onset phenotype are shown in red, those associated with an intermediate-onset phenotype in blue and those associated with a late-onset phenotype in yellow. Missense mutations for which the phenotype was not reported are indicated in grey. Most mutations with known phenotype are early-onset mutations. Late-onset mutations appear to map closer to the periphery of the enzyme. Some of the most common mutations are indicated by a larger ball size. These are Ser298, Arg245 (indicated `1'), Arg74 (`2'), Ser66 (`3') and Gln380. The orientation shown is the same as for one of the subunits (on the left) of the dimer in Fig. 2 ![[link]](../../../../../../logos/arrows/d_arr.gif) (b); the active site is indicated by FGly70 (stick model; standard colours) and Ca2+ ion (black ball). Glycosylations are shown as green sticks. |
![[Figure 7]](cb5050fig7.jpg)
 | STRUCTURAL BIOLOGY |
ISSN: 2059-7983
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