Table 1 of Seong, Mol
Vis 2008; 14:1429-1436.
Table 1. Characterization of mutations and novel unclassified variants identified in this study
Case # |
Gene |
Mutation | Characterization of variant |
Frequency in control |
Amino acid conservation |
Domain |
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 |