Table 4.
Characteristics of sequence variants identified in LCA patients with triallelic inheritance
| Pedigree | Gene | Mutation | Reference | Grantham scorea | MutationTaster prediction | PolyPhen prediction | SIFT prediction |
|---|---|---|---|---|---|---|---|
| Ar-21-04 | RPGRIP1 | p.D1114G | 1 | 94 | B | B | B |
| CEP290 | c.2991+1655A>G | 2 | – | – | – | – | |
| CEP290 | p.R1926P | 3 | 103 | D | D | D | |
| Ar-39-04 | GUCY2D | p.I915V | This report | 29 | D | B | B |
| GUCY2D | p.T838RfsX27 | 3 | – | – | – | – | |
| RPGRIP1 | p.P585S | This report | 74 | B | D | B | |
| Ar-98-11 | GUCY2D | p.P701S | 4 | 74 | B | B | B |
| AIPL1 | p.W278X | 5 | – | – | – | – | |
| AIPL1 | p.R270H | 6 | 29 | D | D | B | |
| Ar-123-04 | GUCY2D | p.R768Q | 7 | 43 | D | D | D |
| GUCY2D | p.R768Q | 7 | 43 | D | D | D | |
| AIPL1 | p.W278X | 5 | – | – | – | – | |
| Ar-177-04 | AIPL1 | p.R302L | 5 | 102 | B | B | B |
| CEP290 | p.A1832PfsX19 | 8 | – | – | – | – | |
| CEP290 | c.2991+1655A>G | 2 | – | – | – | – | |
| Ar-782-04 | RPE65 | p.L341S | 9 | 145 | D | D | D |
| RPE65 | p.S121LfsX6 | This report | – | – | – | – | |
| AIPL1 | p.R324L | This report | 102 | D | B/D | B | |
| Ar-863-03 | CEP290 | c.2991+1655A>G | 2 | – | – | – | – |
| CEP290 | p.F1950LfsX15 | 10 | – | – | – | – | |
| LCA5 | p.G439E | This report | 85 | B | B | B |
B benign variant, D disease causing variant, B/D variant of unknown significance
(1) Gerber et al. (2001), (2) den Hollander et al. (2006), (3) Stone (2007), (4) Dharmaraj et al. (2000), (5) Sohocki et al. (2000b), (6) Simonelli et al. (2007), (7) Lotery et al. (2000), (8) Brancati et al. (2007), (9) Morimura et al. (1998), (10) Perrault et al. (2007)
a
Substitutions determined as conservative (0–50), moderately conservative (51–100), moderately radical (101–150), radical (>150)