Table 1

Summary of autosomal dominant retinitis pigmentosa mutations identified

Gene	Nucleotide change	Amino acid change	Type of mutation	Exon	Number of families	Relative frequency
RP1	2029C→T	R677X	Nonsense	4	2	4.6%
RHO	403C→T	R135W	Missense	2	4	9.3%
	1040C→T	P347L	Missense	5	2	4.6%
	499T→C	C167R		2	1	2.3%
NRL	152C→T	P51L	Missense	2	1	2.3%
CRX	458delC	P153fs	Frameshift	3	1	2.3%
PRPF8	6901C→T	P2301S	Missense	42	1	2.3%