Mutation data of the RS1/XLRS1 gene in X-linked juvenile retinoschisis

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Symptom Hereditary pattern*3 Onset Ethnic Origin Reference
S 79-2 1 G 79-2A->G 1 A-G at nucleotide 79-2 in intron 2 1*2 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
N 120 1 A C40X 1 TGC -TGA at nucleotide 120 -> Cys-Stop at codon 40 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997). Nature Genet 17, 164 (1997).
M 286 1 C W96R 1 TGG-CGG at nucleotide 286 -> Trp-Arg at codon 96 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 304 1 T R102W 1 CGG-TGG at nucleotide 304 -> Arg-Trp at codon 102 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
FI 316 0 A 316insA 1 1-bp ins of A at nucleotide 316 -> frameshift at codon 107 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 325 1 C G109R 1 GGG-CGG at nucleotide 325 -> Gly-Arg at codon 109 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 574 1 T P192S 1 CCC-TCC at nucleotide 574 -> Pro-Ser at codon 192 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 578 1 T P193L 1 CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 626 1 A R209H 1 CGC-CAC at nucleotide 626 -> Arg-His at codon 209 1 XR early ND Sauer, C. G. et al. Nature Genet 17, 164 (1997).
M 214 1 A E72K 4 GAG-AAG at nucleotide 214 -> Glu-Lys at codon 72 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
M 276 1 C W92C 1 TGG-TGC at nucleotide 276 -> Trp-Cys at codon 92 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
M 305 1 A R102Q 1 CGG-CAG at nucleotide 305 -> Arg-Gln at codon 102 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
M 438 1 C E146D 1 GAG-GAC at nucleotide 438 -> Glu-Asp at codon 146 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
N 460 1 T Q154X 1 CAG-TAG at nucleotide 460 -> Gln-Stop at codon 154 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
M 578 1 T P193L 2 CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).
M 638 1 A R213Q 1 CGG-CAG at nucleotide 638 -> Arg-Gln at codon 213 1 XR early Japanese Hotta, Y. et al. Nature Genet 17, 164 (1997).

*1 Abbreviations are as follows: M, Missense; N, Nonsense; S, Splicing; FI, Frameshift Insertion.
*2 macular dystrophy resulting in loss of visual acuity
*3 Abbreviations are as follows: XR, X-linked Recessive; ND, Not Described.







Last updated 12 Dec 1998