Table 2.
Exon 3-skipping haplotypes associated with vision disorders.
| Nucleotide Differences and Locations in cDNA | Amiino Acid Differences and Codon Number | Correctly Spliced (%) | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Haplotype | G/A | C/A | G/C | A/G | T/G | C/T | A/G | T/G | R/R | L/M | V/V | I/V | A/V | I/V | S/A | |
| c.453 | 457 | 465 | 511 | 513 | 521 | 532 | 538 | p.151 | 153 | 155 | 171 | 174 | 178 | 180 | ||
| Hap 1/2 | G | C | G/C | A | T | C | G | G | L | I | A | V | A | 0 | ||
| Hap 3 | G | C | G | G | G | C | G | G | L | V | A | V | A | 6.7 | ||
| Hap 4 | G | C | G | A | T | C | G | T | L | I | A | V | S | 20.3 | ||
| Hap 5/6 | A | A | C/G | A | T | C | G | G | M | I | A | V | A | 10.4–8.8 | ||
| Hap 7/8 | A | A | C/G | G | G | T | G | G | M | V | V | V | A | 80.1–75.6 | ||
| Hap 9 | A | A | C | G | G | C | A | G | M | V | A | V | A | 53.0 | ||
| Hap 10 | G | C | G | A | T | C | A | G | L | I | A | I | A | 40.8 | ||