Table 6 of
Salles, Mol Vis 2018; 24:546-559. Table 6 of
Salles, Mol Vis 2018; 24:546-559.
Table 6. Distribution of pathogenic variants in the ABCA4 gene.
| Complex alleles | |||
|---|---|---|---|
| Nucleotide Change | Protein Change | Location | Allele† |
| c.4926C>G | p.Ser1642Arg | 35 | 7 |
| c.5044_5058del15‡ | p.Val1682_Val1686del | 36 | |
| c.1622T>C | p.Leu541Pro | 12 | 7 |
| c.4328G>A | p.Arg1443His | 29 | |
| c.5282C>G | p.Pro1761Arg | 37 | 2 |
| c.6316C>T | p.Arg2106Cys | 46 | |
| c.5882 G>A | p.Gly1961Glu | 42 | 1 |
| c.3113 C>T | p.Ala1038Val | 21 | |
| c.1622T>C | p.Leu541Pro | 12 | 3 |
| c.3113C>T | p.Ala1038Val | 21 | |
| c.3113C>T | p.Ala1038Val | 21 | 1 |