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. 2013 Dec 8;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