Figure 7.

Stereo figure showing missense mutations mapped onto the structure of the SGSH monomer. C^α 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 ▶(b); the active site is indicated by FGly70 (stick model; standard colours) and Ca²⁺ ion (black ball). Glycosylations are shown as green sticks.