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Mutations causing Snyder Robinson Syndrome. A monomer of human spermine synthase (13) is shown as a ribbon (left) and topology diagram (right) (PDB IDs 3C6K and 3C6M). The N-terminal, central, and C-terminal domains are shown in brown, red, and green, respectively. The loop connecting the N-terminal and central domains is in gray. Known mutations causing SRS are shown (88–94).
