Mutation data of the RDS 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 551 1 C Y184S 1 Cone-rod dystrophy AD reduced visual acuity and no night blindness early Nakazawa (1996) Arch. Ophthalmol. 114, 72.
M 500 1 A G167D 1 Foveal dystrophy AD butterfly-shaped pigment late Nichols (1993) Nature Genet. 3, 202.
M 629 1 G P210R 1 Foveamacular dystrophy sporadic symmetric subfoveal vitelliform lesion late Feist (1994) Am. J. Ophthalmol. 118, 259.
M 515 1 A R172Q 1 Macular dystrophy AD reduced dark adaptation and central vision late Wells (1993) Nature Genet. 3, 213.
M 514 1 T R172W 2 Macular dystrophy AD blurred central vision and photophobia late Wells (1993) Nature Genet. 3, 213.
N 774 1 A Y258X 1 Vitelliform macular dystrophy AD distorted central vision late Wells (1993) Nature Genet. 3, 213.
N 136 1 T R46X 1 Retinitis pigmentosa AD diffuse severe retinal dysfunction early Meins (1993) Hum. Molec. Genet. 2, 2181.
M 518 1 T D173V 1 Retinitis pigmentosa AD severe retinal dysfunction early Gruning (1994) Hum. Mut. 3, 321.
M 554 1 C L185P 1 Retinitis pigmentosa AD reduced rod and cone response early Kajiwara (1991) Nature 354, 480.
M 634 1 G S212G 1 Retinitis pigmentosa AD reduced rod and cone response late Farrar (1992) Genomics 14, 805.
M 647 1 T P216L 1 Retinitis pigmentosa AD reduced rod and cone response ND Kajiwara (1991) Nature 354, 480.
M 732 1 A N244K 1 Retinitis pigmentosa AD night blindness, visual field loss and bull's eye macropathy early Kikawa (1994) Genomics 20, 137.
M 730 1 C N244H 1 Retinitis pigmentosa AD Cone-rod degeneration early Nakazawa (1994) Hum. Molec. Genet. 3, 1195
M 641 1 C C214S 1 Retinitis pigmentosa AD ND late Saga, M. (1993) Hum. Genet. 92, 519.

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







Last updated 21 Oct 1998