Table 6 of
Aragon-Martin, Mol Vis 2008; 14:533-541. Table 6 of
Aragon-Martin, Mol Vis 2008; 14:533-541.
Table 6. DNA sequencing results of 95 patients with exfoliation syndrome.
| Location | Nucleotide change | Amino acid change | SNP number | Wildtype homozygous | Number of subjects observed with this variant | |
| Heterozygous | Homozygous | |||||
| Exon 1 | CGG>CTG | R141L | rs1048661 | 61 | 33 | 1 |
| GGC>GAC | G153D | rs3825942 | 90 | 5 | 0 | |
| GGC>GGT | G240G | - | 94 | 1 | 0 | |
| GAC>GAT | D292D | - | 93 | 2 | 0 | |
| GCG>GCT | A320A | - | 82 | 12 | 1 | |
| Exon 2 | GTG>GTC | V385V | - | 94 | 1 | 0 |
| Intron 2 | IVS2+197C>T | - | rs2304719 | 84 | 11 | 0 |
| Intron 3 | IVS3+23C>T | - | - | 94 | 1 | 0 |
| IVS3–155G>A | - | - | 82 | 13 | 0 | |
| IVS3–101G>A | - | - | 66 | 28 | 0 | |
| Intron 4 | IVS4+49G>A | - | - | 94 | 1 | 0 |
| Intron 5 | IVS5+111C>A | - | rs2304721 | 79 | 15 | 1 |
| IVS5–121C>T | - | - | 88 | 6 | 0 | |
| IVS5–51T>C | - | rs2304722 | 67 | 28 | 0 | |