Mutation data of the PDE6A gene in retinitis pigmentosa

*Mutation type^1**	Mutation position	Length of affected nucleotides	Nucleotide sequence after mutation	Mutation name	Case #	Consequence	Disease	Symptom	*Hereditary pattern^2**	Onset	Reference
M	1032	1	A	S344R	1	AGCg-AGA --> Ser-Arg at codon 344	Retinitis pigmentosa	severe retinal dysfunction	AR	early	Huang (1995) Nature Genet. 11, 468.
N	1683	1	A	W561X	1	TGGc-TGA --> Trp-Term at codon 561	Retinitis pigmentosa	severe retinal dysfunction	AR	early	Huang (1995) Nature Genet. 11, 468.
N	1749	1	G	Y583X	1	TACt-TAG --> Tyr-Term at codon 583	Retinitis pigmentosa	severe retinal dysfunction	AR	early	Huang (1995) Nature Genet. 11, 468.

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AR, Autosomal Recessive.

Last updated 31 March 1999