Table 2.
Mutations in families affected with LCA
| Pedigree | Allele I |
Allele II |
||
|---|---|---|---|---|
| Nucleotide | Translation | Nucleotide | Translation | |
| GUCY2D | ||||
| Ar-039 | c.2743A>G | P.I915V | c.2516delC | p.T838RfsX27 |
| Ar-085 | c.1343C>A | p.S448X | c.1343C>A | p.S448X |
| Ar-123 | c.2303G>A | p.R768Q | c.2303G>A | p.R768Q |
| Ar-695 | C.2302C>T | p.R768W | c.692_693insG | p.K232EfsX86 |
| Ar-712 | c.1343C>A | p.S448X | c.1343C>A | p.S448X |
| Ar-098 | c.2101C>T | p.P701S | ? | ? |
| Ar-666 | c.2248G>T | p.E750X | ? | ? |
| Ar-785 | c.2302C>T | p.R768W | ? | ? |
| RPE65 | ||||
| Ar-073 | c.284A>G | p.E95G | c.284A>G | p.E95G |
| Ar-089 | C.271C>T | p.R91W | c.1102T>C | p.Y368H |
| Ar-782 | c.1022T>C | p.L341S | c.355delT | p.S121LfsX6 |
| CRX | ||||
| Ar-589 | c.705delC | p.L236SfsX135 | ? | ? |
| AIPL1 | ||||
| Ar-072 | c.834G>A | p.W278X | c.834G>A | p.W278X |
| Ar-098 | c.834G>A | p.W278X | c.809G>A | p.R270H |
| Ar-553 | c.834G>A | p.W278X | c.834G>A | p.W278X |
| Ar-770 | c.266G>A | p.C89Y | c.266G>A | p.C89Y |
| Ar-123 | c.834G>A | p.W278X | ? | ? |
| Ar-164 | c.971G>T | p.R324L | ? | ? |
| Ar-177 | c.905G>T | p.R302L | ? | ? |
| Ar-782 | c.971G>T | p.R324L | ? | ? |
| CRB1 | ||||
| Ar-170 | c.3038A>C | p.Q1013P | c.2548G>A | p.G850S |
| Ar-597 | c.2843G>A | p.C948Y | c.2843G>A | p.C948Y |
| Ar-611 | c.2401A>T | p.K801X | c.2688T>A | p.C896X |
| Ar-115 | c.2401A>T | p.K801X | ? | ? |
| Ar-785 | c.853A>C | p.S285R | ? | ? |
| RPGRIP1 | ||||
| Ar-848 | c.2367+1G>A | Splice | c.2710+1G>A | splice |
| Ar-021 | c.3341A>G | P.D1114G | ? | ? |
| Ar-039 | c.1753C>T | p.P585S | ? | ? |
| CEP290 | ||||
| Ar-21 | c.2991+1655A>G | p.C998X;WT | c.5777G>C | p.R1926P |
| Ar-51 | c.6277delG | p.V2093SfsX4 | ? | ? |
| Ar-81 | c.2991+1655A>G | p.C998X;WT | c.829G>C | p.E277Q |
| Ar-86 | c.2991+1655A>G | p.C998X;WT | c.1429C>T | p.R447X |
| Ar-107 | c.2991+1655A>G | p.C998X;WT | c.3178delA | p.T1060LfsX5 |
| Ar-110 | c.2991+1655A>G | p.C998X;WT | c.4452_4455delAGAA | p.E1484LfsX3 |
| Ar-113 | c.2991+1655A>G | p.C998X;WT | c.1236delG | p.L412X |
| Ar-137 | c.2991+1655A>G | p.C998X;WT | c.1066-1G>A | splice |
| Ar-163 | c.2991+1655A>G | p.C998X;WT | c.1830delA | p.L611FfsX5 |
| Ar-177 | c.2991+1655A>G | p.C998X;WT | c.5493delA | p.A1831PfsX19 |
| Ar-187 | c.2991+1655A>G | p.C998X;WT | c.5813_5817delCTTTA | p.T1938DfsX16 |
| Ar-612 | c.2213delT | p.L738X | c.4438-3delC | splice |
| Ar-681 | c.2991+1655A>G | p.C998X;WT | c.4962_4963delAA | p.E1655NfsX3 |
| Ar-746 | c.2991+1655A>G | p.C998X;WT | C.4882C>T | p.Q1628X |
| Ar-757 | c.2991+1655A>G | p.C998X;WT | ? | ? |
| Ar-759 | c.2991+1655A>G | p.C998X;WT | c.2505_2506delAG | p.G836IfsX2 |
| Ar-863 | c.2991+1655A>G | p.C998X;WT | c.5850delT | p.F1950LfsX15 |
| Ar-864 | c.2991+1655A>G | p.C998X;WT | c.3185delT | p.L1062RfsX3 |
| Ar-889 | c.2991+1655A>G | p.C998X;WT | c.5218C>T | p.Q1740X |
| LCA5 | ||||
| Ar-588 | c.835C>T | p.Q279X | c.835C>T | p.Q279X |
| Ar-863 | c.1316G>A | p.G439E | ? | ? |
? unknown