Table 2 of Zhang, Mol Vis 2010; 16:1353-1360.


Table 2. Carriers and pathogenic potentials of the 3 novel RP1 nonsynonymous variants.

  Nucleotide Residual Case
PolyPhen SIFT PMUT Grantham
Location change change Type Sex Age Control Prediction PSIC score Prediction Score Prediction RI Score
Exon 4 c.1222A>C p.I408L adRP F 56 0/552 Borderline 1.234 Tolerant 0.29 Neutral 9 5
Exon 4 c.4108A>G p.K1370E sRP F 61 0/552 Potentially damaging 1.477 Potentially Intolerant 0.09 Pathological 0 56
Exon 4 c.4955G>T p.R1652L sRP F 50 0/552 Possibly damaging 1.63 Potentially Intolerant 0.1 Pathological 7 102