Results of mutation analysis at the genomic DNA level of the CRB1 gene
| Mutations | Sequence variation | Cd | Exon | Effect | Cosegregation |
|---|---|---|---|---|---|
| *Not previously reported change; nc: non-conservative change; scc: synonymous codon change; c: conservative change | |||||
| M-717* | nt 47881 ins G | 160-161 | 2 | 168 Stop | + |
| M-489* | nt 614 T>C | 205 | 2 | Ile205Thr (nc) | + |
| M-641* | nt 224447 del 3bp | 749 | 7 | delSer | + |
| B-102* | nt 2671 T>G | 891 | 7 | Cys891Gly | + |
| M-69/M-641 | nt 2843 G>A | 948 | 9 | Cys948Tyr | + |
| B-15* | nt 288288 del 3bp | 962 | 9 | delLeu | + |
| B-102/M-69* | nt 3299 T>C | 1100 | 9 | Ile1100Thr (nc) | + |
| Rare sequence variants | |||||
| M-43 | nt 867 C>T | 289 | 4 | Thr289Met (nc) | - |
| V-4/M-489 | nt 1410 G>A | 470 | 4 | Leu470Leu (scc) | - |
| B-141 | nt 1647 T>C | 549 | 6 | Asn549Asn (scc) | - |
| M-180* | nt 2035 C>G | 679 | 6 | Gln679Glu (nc) | - |
| B-50 | nt 2306 G>A | 769 | 7 | Arg769His (c) | - |
| M-68 | nt 3171 C>T | 1057 | 9 | Asn1057Asn (scc) | - |
| M-40 | nt 3992 G>A | 1331 | 11 | Arg1331His (c) | - |
| M-69 | 5′UTR-268 G>A | ||||
| Polymorphic intronic variants | |||||
| T/A | IVS1-12 | - | |||
| T/A* | IVS2+42 | - | |||
| T/G* | IVS4-53 | - | |||
| T/G* | IVS4-64 | - | |||