Table 1 of Ávila-Fernández, Mol Vis 2010; 16:2550-2558.


Table 1. Mutations identified in patients with juvenile RP.

Juvenile RP
      Mutation 1 Mutation 2
Family Inheritance pattern Gene Nucleotide change Protein defect Nucleotide change Protein defect
RP-0531 ARRP CNGA1 c.94G>A p.Arg32Stop c.94G>A p.Arg32Stop
RP-0561 ARRP CRB1 c.2234C>T p.Thr745Met c.3988G>T p.Glu1330Stop^
RP-1311 SRP CRB1 c.611_617delAAATAGG p.Ile205AspfsX13    
RP-0235 ARRP PDE6A c.304C>A p.Arg102Ser    
RP-0341 ARRP PDE6A c.998+1G>A Splicing defect c.1705C>A p.Gly569Lys^
RP-0054 SRP PDE6B c.810C>A p.Cys270Stop c.810C>A p.Cys270Stop
RP-0340 ARRP RDH12 c.464C>T p.Tyr155Ile c.464C>T p.Tyr155Ile
RP-0379 SRP RDH12 c.375T>A p.Asn125Lys c.701G>A p.Arg234Hys
RP-1339 SRP RDH12 c.295C>A p.Leu99Ile c.278T>C p.Leu93Pro^
RP-0979 ARRP RLBP1 c.451C>T p.Arg151Gln c.451C>T p.Arg151Gln
RP-1115 ARRP* RPE65 c.95–2A>T Splicing defect c.457A>G p.Thr153Ala^
RP-1206 SRP SAG c.577C>T p.Arg193Stop c.577C>T p.Arg193Stop