Table 2 of Kim, Mol Vis 2012; 18:2398-2410.

Table 2. Mutations identified in the present study

Gene Amino acid Nucleotide Proband (336) Control (360) PolyPhen-2 SIFT Reference



Hetero Homo Frequency Hetero Homo Frequency


PRPF3 p.T494M c.1481C>T 1 0 0.001 0 0 0 prob/prob Damaging [17,38]
RHO p.T17M c.50C>T 1 0 0.001 0 0 0 prob/poss *Damaging [18,39]

p.R135W c.403C>T 1 0 0.001 0 0 0 prob/prob *Damaging [19,20]

p.D190N c.568G>A 1 0 0.001 0 0 0 poss/poss *Damaging [21]

p.K296N c.888G>T 1 0 0.001 0 0 0 prob/prob *Damaging [18,24]

p.P347L c.1040C>T 2 0 0.003 0 0 0 poss/benign *Damaging [18,40]
PDE6B p.H557Y c.1669C>T 9 4 0.025 2 0 0.003 prob/prob Damaging [20,22]

p.T604I c.1811C>T 4 0 0.006 3 0 0.004 prob/prob Damaging [20]
PRPH2 p.W316G c.946T>G 1 0 0.001 1 0 0.001 benign/benign Damaging [20]
RP1 p.G706R c.2116G>C 1 0 0.001 1 0 0.001 benign/benign Tolerated [25]

p.D984G c.2951A>G 1 0 0.001 0 0 0 poss/benign Tolerated [23]
CRX p.G122D c.365G>A 3 0 0.004 3 0 0.004 benign/benign Tolerated [20,24]

Prediction by PolyPhen2 was performed using both HumDiv and HumVar data sets. *Damaging, low confidence predictions with Median conservation above 3.25. Hetero, heterozygous mutation; Homo, homozygous mutation; prob, probably damaging; poss, possibly damaging.

Kim, Mol Vis 2012; 18:2398-2410. http://www.molvis.org/molvis/v18/a253

©2012 Molecular Vision http://www.molvis.org/molvis/

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