Table 2 of Bocquet, Mol Vis 2013; 19:2487-2500.

Table 2. Mutations found in this study

Family # Gene cDNA change Protein change Prediction Allele frequency Previously described
PB15 IMPG2 c.636delA p.Glu213ArgfsX17 deletion of the last 1012 AA 0 novel
PB74 PDE6B c.1568T>G p.Met523Arg possibly damaging 0 novel
RP517 RLBP1 DelExons7–9 p.Ile176_Phe317del deletion of the last 142 AA nd* [62]
RP670 NR2E3 c.364C>T p.Arg122Cys probably damaging 0 novel
RP854 RP1 c.3418delGG p.Gly1140LysfsX4 deletion of the last 1013 AA 0 novel
RP1013 C2ORF71 c.403G>T p.E135X deletion of the last 1154 AA 0 novel
RP1324 CNGB1 c.2284C>T p.Arg762Cys probably damaging 0 novel
RP1361 PDE6A c.769C>T p.Arg257X deletion of the last 603 AA 0.000093** [40]
RP1625 RP1 c.1186C>T p.Arg396X deletion of the last 1760 AA 0.000076** rs201493928
RP1682 RLBP1 c.488insA p.Ile163AsnfsX1 deletion of the last 154 AA 0 novel

For each family with a positive molecular result, we indicate the name of the causative gene, the cDNA change, the protein change and its prediction, the allele frequency of the mutation, and when possible the reference of the mutation found. *nd: not determined ** based on Exome Variant Server database

Bocquet, Mol Vis 2013; 19:2487-2500. http://www.molvis.org/molvis/v19/2487

©2013 Molecular Vision http://www.molvis.org/molvis/

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