Mutation data of the PDE6B gene

*Mutation type^1**	Mutation position	Length of affected nucleotides	Nucleotide sequence after mutation	Mutation name	Case #	Disease	*Hereditary pattern^2**	Symptom	Onset	Reference
M	772	1	A	H258N	1	Congenital stationary night blindness	AD	night blindness	congenital	Gal (1994) Nature Genet. 7, 64.
N	892	1	T	Q298X	4	Retinitis pigmentosa	AR	reduced rod and cone response	early	McLaughlin (1993) Nature Genet. 4, 130.
M	1580	1	C	L527P	2	Retinitis pigmentosa	AR	reduced rod response	ND	McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
N	1591	1	T	R531X	2	Retinitis pigmentosa	AR	reduced rod and cone response	early	McLaughlin (1993) Nature Genet. 4, 130.
M	1669	1	T	H557Y	2	Retinitis pigmentosa	AR	reduced rod response	ND	McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
M	1727	1	A	G576D	2	Retinitis pigmentosa	AR	severe retinal dysfunction	early	Danciger (1995) Genomics 30, 1.
M	2096	1	G	L699R	2	Retinitis pigmentosa	AR	severe retinal dysfunction	early	Valverde (1996) Hum. Genet. 97, 35.
N	2116	1	T	K706X	2	Retinitis pigmentosa	AR	reduced rod response	ND	McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
M	1604	1	A	I535N	2	Retinitis pigmentosa	AR	visual field disturbance, and poor night vision since childhood	late	Saga, M. (1998) Curr. Eye Res. 17, 332.

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AD, Autosomal Dominant; AR, Autosomal Recessive; ND, Not Described.

Last updated 9 Dec 1998