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

Table 1

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

Domains	Amino acids
βγ-Transducin binding site	1–23
Nuclear localization signal	21–52
GTP/GDP binding sites	36–43, 171–177, 196–200, 265–268, and 321–323
Unknown region	129
Magnesium binding site	43, 177
PDE6γ inhibitory binding site	306–310
Activated RHO binding site	311–328 and 340–350

NLS = nuclear localization signal.