Protein sector analysis for the clustering of disease-associated mutations

BMC Genomics

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

	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

The disease-associated sites were obtained from OMIM and publications, and the list is organized according to the residue location in the protein domains.

ISSN: 1471-2164