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Table 1 List of the residues associated with diseases in spermine synthase and Rab GDP dissociation inhibitor.

From: Protein sector analysis for the clustering of disease-associated mutations

  Residue Sector Domain/Region Effect/Associated Phenotype
Spermine Synthase G56A Red N-terminal Snyder-Robinson syndrome. Expanded phenotype of disease reported in [23]
  G67A Red N-terminal New Snyder-Robinson syndrome phenotype. Expanded phenotype of disease reported in [30]
  V132A Red N-terminal/long loop Snyder-Robinson syndrome. Expanded phenotype of disease reported in [24]
  I150A Red Central (beta-strand) Decrease the stability of the C-terminal region, Snyder-Robinson syndrome
  Y328A Green C-terminal/catalytic Mild mental retardation, Snyder-Robinson syndrome
GDI1 L92P - FAD/NAD(P) binding domain Non-specific mental retardation
  R70TER Green FAD/NAD(P) binding domain Non-specific mental retardation
  R423P Blue FAD/NAD(P) binding domain Non-specific mental retardation
  1. The disease-associated sites were obtained from OMIM and publications, and the list is organized according to the residue location in the protein domains.