A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Table 2

Domains affected in patients with GNAT1 leading to autosomal dominant (ad) and autosomal recessive (ar) congenital stationary night blindness (CSNB) or ar rod-cone dystrophy (RCD).

Mutation (aa)	Mode of inheritance and phenotype	Domains affected	Reference
p.Gly38Asp	adCSNB	NLS, GTP/GDP binding sites	[5]
p.Ile52Asn	adCSNB	NLS	Reported herein
p.Gln200Glu	adCSNB	GTP/GDP binding sites	[5, 14]
p.Asp129Gly	arCSNB	unknown	[15]
p.Gln302	arRCD	Truncates: GTP/GDP binding sites, PDE6γ inhibitory binding site and activated RHO binding site	[23]
p.Cys321	arRCD	Truncates: GTP/GDP binding sites and activated RHO binding site	[24]

NLS = nuclear localization signal.