Table 2 of Ernest, Mol Vis 2009; 15:2841-2847. Table 2 of Ernest, Mol Vis 2009; 15:2841-2847.
Table 2. Discovered mutations in the ABCA4 gene in the patients included in this study
| Nucleotide change | Effect | Alleles | References |
|---|---|---|---|
| Mutations already included in the ABCA4 microarray | |||
| c.286A>G | p.Asn96Asp | 2 | [25] |
| c.656G>C | p.Arg219Thr | 1 | [10] |
| c.740A>T | p.Asn247Ile | 1 | This study* |
| c.768G>T | splice site | 7 | [13] |
| c.899C>A | p.Thr300Asn | 1 | [14] |
| c.1805G>A | p.Arg602Gln | 1 | [9] |
| c.1822T>A | p.Phe608Ile | 2 | [13] |
| c.1853G>A | p.Gly618Glu | 1 | [19] |
| c.1938–1G>A | splice site | 1 | [26] |
| c.2588G>C | p.DelGly863/Gly863Ala | 8 | [13] |
| c.2919del exons20–22 | deletion/frameshift | 2 | [13] |
| c.3335C>A | p.Thr1112Asn | 1 | [13] |
| c.3874C>T | p.Gln1292X | 1 | This study* |
| c.3899G>A | p.Arg1300Gln | 1 | [27] |
| c.4297G>A | p.Val1433Ile | 1 | [17] |
| c.4462T>C | p.Cys1488Arg | 1 | [17] |
| c.4506C>A | p.Cys1502X | 1 | This study* |
| c.4539+1G>T | splice site | 1 | [28] |
| c.4774+1G>A | splice site | 1 | [1] |
| c.5161–5162delAC | p.Thr1721fs | 1 | [27] |
| c.5337C>A | p.Tyr1779X | 1 | This study* |
| c.5461–10T>C | unknown | 9 | [9] |
| c.5537T>C | p.Ile1846Thr | 1 | [13] |
| c.5693G>A | p.Arg1898His | 1 | [1] |
| c.5715+5G>A | splice site | 2 | [28] |
| c.5882G>A | p.Gly1961Glu | 10 | [1] |
| c.6088C>T | p.Arg2030X | 1 | [14] |
| c.6089G>A | p.Arg2030Gln | 1 | [9] |
| c.6238–6239delTC | p.Ser2080fs | 1 | [29] |
| c.6529G>A | p.Asp2177Asn | 1 | [1] |
| New mutations found with DGGE analysis | |||
| c.303+4A>C | splice site | 1 | |
| c.872C>T | p.Pro291Leu | 1 | |
| c.2906A>G | p.Lys969Arg | 1 | |
| c.2947A>G | p.Thr983Ala | 1 | |
| c.3233G>A | p.Gly1078Glu | 1 | |
| c.3305A>T | p.Asp1102Val | 1 | |
| c.4353+1G>A | splice site | 1 | |
| c.5113C>T | p.Arg1705Trp | 1 | |
| c.5762_5763dup | p.Ala1922fs | 1 | |
| c.6411T>A | p.Cys2137X | 1 | |
| Total | 74 | ||