Mutation data of the RHO gene in retinitis pigmentosa

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Hereditary pattern*2 Symptom Onset Reference
M 875 1 A A292E 1*3 AD night blindness congenital Dryja (1993) Nature Genet. 4, 280.
M 11 1 A T4K 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 44 1 G N15S 4 AD sectorial and mild visual field loss ND Kranich (1993) Hum. Molec. Genet. 2, 813.
M 50 1 T T17M 1 AD ND ND Sheffield (1991) Am. J. Hum. Genet. 49, 699.
M 50 1 T T17M 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 50 1 T T17M 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 68 1 A P23H 17 AD reduced rod response early Dryja (1990) Nature 343, 364.
M 68 1 A P23H 4 AD ND ND Sheffield (1991) Am. J. Hum. Genet. 49, 699.
M 68 1 T P23L 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 84 1 T Q28H 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 119 1 G L40R 1 AD severe retinal dysfunction early Al-Maghtheh (1994) Hum. Mut. 3, 409.
M 131 1 C M44T 1 simplex night blindness and visual field loss early Reig (1994) Hum. Genet. 94, 283.
M 133 1 C F45L 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 137 1 G L46R 1 AD no rod response and minimal cone response early Rodriguez (1993) Hum. Mut. 2, 205.
M 152 1 C G51A 1 AD night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 152 1 T G51V 2 AD reduced rod respnose ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 151 1 C G51R 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
M 158 1 G P53R 1 AD ND ND Inglehearn (1992) Hum. Molec. Genet. 1, 41.
M 173 1 G T58R 1 AD mild retinal dysfunction ND Dryja (1990) New Engl. J. Med. 323, 1302.
M 173 1 G T58R 1 AD ND ND Sheffield (1991) Am. J. Hum. Genet. 49, 699.
M 173 1 G T58R 1 AD mild retinal dysfunction late Richards (1991) Ophthalmology 98, 1797.
M 173 1 G T58R 1 AD ND ND Bunge (1993) Genomics 17, 230.
N 190 1 T Q64X 1 AD night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 260 1 A V87D 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 266 1 A G89D 2 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 269 1 A G90D 1 AD no rod response early Sieving (1992) Invest. Ophthalmol. Vis. Sci. (Suppl.) 33, 1397.
M 316 1 A G106R 1 AD ND ND Inglehearn (1992) Hum. Molec. Genet. 1, 41.
M 316 1 T G106W 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 329 1 A C110Y 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
M 329 1 T C110F 1 AD ND ND Fuchs (1994) Hum. Molec. Genet. 3, 1203.
M 341 1 A G114D 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
P 360 1 T 360C/T 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 374 1 G L125R 1 AD reduced rod respnose ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 380 1 T S127F 1 AD ND ND Souied (1994) Hum. Molec. Genet. 3, 1433.
M 392 1 C L131P 1 AD ND ND Fuchs (1994) Hum. Molec. Genet. 3, 1203.
M 404 1 T R135L 1 AD severe retinal dysfunction early Jacobson (1991) Am. J. Ophthalmol. 112, 256.
M 404 1 T R135L 1 AD severe retinal dysfunction early Andreasson (1992) Ophthal. Paed. Genet. 13, 145.
M 403 1 G R135G 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 403 1 T R135W 2 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 403 1 T R135W 1 AD severe retinal dysfunction early Pannarale (1996) Ophthalmology 103, 1443.
N 408 1 A Y136X 1 AD mild retinal dysfunction late Sanchez (1996) Hum. Mut. 7, 180.
M 409 1 A V137M 1 AD visual field loss, reduced rod response and strabism early Ayuso (1996) Hum. Genet. 98, 51.
M 419 1 C C140S 1 AD night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 448 1 A E150K 1 AR no rod and cone response early Kumaramanickavel (1994) Nature Genet. 8, 11.
M 491 1 A A164E 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
M 491 1 T A164V 1 AD ND ND Fuchs (1994) Hum. Molec. Genet. 3, 1203.
M 499 1 C C167R 1 AD reduced rod respnose ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 512 1 A P171Q 1 AD night blindness and visual field loss early Antin olo (1994) Hum. Molec. Genet. 3, 1421.
M 512 1 T P171L 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 511 1 T P171S 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
P 519 1 T 519C/T 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 533 1 G Y178C 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 533 1 G Y178C 2 AD severe retinal dysfunction early Farrar (1991) Genomics 11, 1170.
M 532 1 A Y178N 1 AD ND ND Souied (1994) Hum. Molec. Genet. 3, 1433.
M 541 1 A E181K 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 541 1 A E181K 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 544 1 A G182S 1 AD ND ND Sheffield (1991) Am. J. Hum. Genet. 49, 699.
M 556 1 C S186P 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 560 1 A C187Y 1 AD severe retinal dysfunction early Richards (1995) Ophthalmology 102, 669.
M 563 1 A G188E 1 AD night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 562 1 A G188R 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 562 1 A G188R 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 569 1 G D190G 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 569 1 G D190G 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 568 1 A D190N 2 AD ND ND Keen (1991) Genomics 11, 199.
M 568 1 T D190Y 1 AD ND ND Al-Maghtheh (1993) Hum. Mut. 2, 249.
M 620 1 G M207R 1 AD no rod response and retained cone response early Farrar (1992) Hum. Molec. Genet. 1, 769.
M 625 1 A V209M 1 simplex night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 632 1 C H211P 1 AD ND ND Keen (1991) Genomics 11, 199.
M 632 1 G H211R 1 AD night blindness and visual field loss ND Macke (1993) Am. J. Hum. Genet. 53, 80.
M 647 1 A M216K 1 AD abnormal ERG response and defective dark adaptation variable Al-Maghtheh (1994) Hum. Mut. 3, 409.
M 659 1 G F220C 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 664 1 C C222R 1 AD ND ND Bunge (1993) Genomics 17, 230.
N 745 1 T E249X 1 AR no rod response and minimal cone response ND Rosenfeld (1992) Nature Genet. 1, 209.
D 763-768 3 ATC 763delATC 1 AD mild retinal dysfunction early Inglehearn (1991) Am. J. Hum. Genet. 48, 26.
D 763-768 3 ATC 763delATC 1 AD ND ND Bunge (1993) Genomics 17,230.
M 800 1 G P267R 1 AD ND ND Souied (1994) Hum. Molec. Genet. 3, 1433.
M 800 1 T P267L 1 AD ND ND Sheffield (1991) Am. J. Hum. Genet. 49, 699.
M 886 1 G K296E 1 AD severe retinal dysfunction and cataract early Keen (1991) Genomics 11, 199.
M 886 1 G K296E 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 891 1 A S297R 1 AD ND ND Souied (1994) Hum. Molec. Genet. 3, 1433.
N 1030 1 T Q344X 1 AD ND ND Sung (1991) Proc. Natl. Acad. Sci. USA 88, 6481.
M 1033 1 A V345M 1 AD reduced rod response ND Dryja (1991) Proc. Natl. Acad. Sci. USA 88, 9370.
M 1033 1 A V345M 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 1033 1 C V345L 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
M 1036 1 C A346P 1 AD severe retinal dysfunction early Borrego (1996) Hum. Mut. 7, 180.
M 1040 1 A P347Q 1 AD ND ND Vaithinathan (1994) Genomics 21, 461.
M 1040 1 G P347R 1 AD night blindness, visual field loss and myopic oblique astigmatism early Gal (1991) Genomics 11, 468.
M 1040 1 G P347R 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 1040 1 T P347L 8 AD reduced rod and cone response ND Dryja (1990) New Engl. J. Med. 323, 1302.
M 1040 1 T P347L 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 1039 1 G P347A 1 AD night blindness and visual field loss early Macke (1995) Hum. Molec. Genet. 4, 775.
M 1039 1 T P347S 1 AD reduced rod response and no cone response ND Dryja (1990) New Engl. J. Med. 323, 1302.
M 1039 1 T P347S 1 AD ND ND Bunge (1993) Genomics 17, 230.
M 541 1 A E181K 1 AD a diffuse loss of rod and cone function, and a relatively good preservation of cone function early Saga, M. (1994) Ophthalmic Genet. 15, 61.
M 44 1 G N15S 1 AD pigmentary degeneration in the lower hemiretina, and visual field defects late Yoshii, M. (1998) Ophthalmic Res. 30, 1.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; D, Deletion.
*2 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.
*3 This case showed congenital stationary night blindness instead of retinitis pigmentosa.







Last updated 21 Oct 1998