Table 1 of Seong, Mol Vis 2008; 14:1429-1436.

Table 1. Characterization of mutations and novel unclassified variants identified in this study

 Mutation Characterization
of variant
in control
Amino acid

In-silico analysis
Polyphen SIFT PMut
5 RPE65 c.271C>T (R91W)* Missense/Pathogenic

    c.858+1G>T (IVS8+1G>T)* Splicing/Pathogenic

11 RPGRIP1 c.1295C>T (S432F) Missense/Unclassified 0.003 Some species Coiled coil region Damaging Not tolerated Pathological
6 RPGRIP1 c.1802C>G (S601W) Missense/Unclassified <0.01 Some species C2 domain Damaging Not tolerated Pathological
13 RPGRIP1 c.1892A>T (H631P) Missense/Pathogenic <0.01 Well conserved C2 domain Damaging Tolerated Pathological
    c.3560_3566delAAGGCCG Frameshift/Pathogenic

12 RPGRIP1 c.3170A>T (H1057L) Missense/Unclassified 0.006 Some species RPGR interacting domain Damaging Tolerated Pathological
17 CRB1 c.998G>A (G333D) Missense/Pathogenic <0.01 Well conserved EGF-like domain Damaging Not tolerated Neutral
    c.1576C>T (R526X) Nonsense/Pathogenic