Table 1 of Blanco-Kelly, Mol Vis 2012; 18:1478-1483.


Table 1. Mutations detected in the adRP Spanish cohort (n=139)



Gene


Mutation
Number
of mutated
families
RHO
  p.Gly106Arg 1
  p.Arg135Leu 1
  p.Ala164Glu 1
  p.Pro171Leu 1
  p.Tyr178Cys 1
  p.Glu181Lys 1*
  p.Gly182Ser 1
  p.Asp190Tyr 1
  p.Pro347Leu 4
RP1
  p.Arg677Stop 1
  p.Lys705fsX711 1
  p.Cys744Stop 1
PRPF31
  p.Cys299Arg 1
  p.Thr494Met 3
CRX
  p.Arg41Gln 1
NR2E3
  p.Gly56Arg 1 (microarray genotyping) +
    5 (direct sequencing)
Total   20 (microarray genotyping) + 6 (direct sequencing)