Mutation data of the RP3 gene in retinitis pigmentosa

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Hereditary pattern*2 Symptom Onset Reference
N 154 1 T G52X 1 GGA-TGA at ntd 154 -> Gly-Term at codon 52 Retinitis pigmentosa XR severe retinitis pigmentosa early Meindl et al.Nature Genet.13,35(1996).
M 294 1 A H98Q 1 CAC-CAA at ntd 294 -> His-Gln at codon 98 Retinitis pigmentosa XR severe retinal dysfunction early Meindl et al.Nature Genet.13,35(1996).
M 389 1 G F130C 1 TTT-TGT at ntd 389 -> Phe-Cys at codon 130 Retinitis pigmentosa XR severe retinal dysfunction ND Roepman et al.Hum. Molec. Genet.5,1035(1996).
N 581 1 A W194X 1 TGG-TAG at ntd 581 -> Trp-Term at codon 194 Retinitis pigmentosa XR severe retinal dysfunction early Meindl et al.Nature Genet.13,35(1996).
M 644 1 T G215V 1 GGA-GTA at ntd 644 -> Gly-Val at codon 215 Retinitis pigmentosa XR severe retinal dysfunction early Meindl et al.Nature Genet.13,35(1996).
M 703 1 T P235S 1 CCC-TCC at ntd 703 -> Pro-Ser at codon 235 Retinitis pigmentosa XR severe retinal dysfunction ND Roepman et al.Hum. Molec. Genet.5,1035(1996).
M 748 1 C C250R 1 TGT-CGT at ntd 748 -> Cys-Arg at codon 250 Retinitis pigmentosa XR severe retinal dysfunction early Meindl et al.Nature Genet. 13, 35(1996).
M 823 1 A G275S 1 GGT-AGT at ntd 823 -> Gly-Ser at codon 275 Retinitis pigmentosa XR severe retinal dysfunction ND Roepman et al.Hum. Molec. Genet.5,1035(1996).

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: XR, X-linked Recessive; ND, Not Described.







Last updated 31 March 1999