Table 4 of
Roberts, Mol Vis 2012; 18:280-289. Table 4 of
Roberts, Mol Vis 2012; 18:280-289.
Table 4. Spectrum of ABCA4 mutations detected using the ABCR400 microarray in 181 South African probands
| Amino acid change |
Nucleotide change |
No. of alleles detected |
Frequency |
|---|---|---|---|
| p.Cys54Tyr | c. 161 G>A | 2 | 0.55% |
| p.Arg152* | c. 454 C>T | 12 | 3.31% |
| p.Arg152Gln | c. 455 G>A | 3 | 0.83% |
| p.Gly172Ser | c. 514 G>A | 1 | 0.28% |
| p.Arg212Cys | c. 634 C>T | 1 | 0.28% |
| p.Lys223Gln | c. 667 A>C | 1 | 0.28% |
| p.V256V (Splice) | c. 768 G>T | 18 | 4.97% |
| p.Pro291Leu | c. 872 C>T | 1 | 0.28% |
| p.Trp439* | c. 1317 G>A | 1 | 0.28% |
| p.Ala538Asp | c. 1613 C>A | 1 | 0.28% |
| p.Leu541Pro | c. 1622 T>C | 1 | 0.28% |
| p.Arg602Trp | c. 1804C>T | 30 | 8.29% |
| p.Val643Met | c. 1927 G>A | 1 | 0.28% |
| p.Arg653Cys | c. 1957 C>T | 1 | 0.28% |
| p.Arg681* | c. 2041 C>T | 3 | 0.83% |
| p.Val767Asp | c. 2300 T>A | 1 | 0.28% |
| p.Trp855* | c.2564_2571delGGTACCTT | 2 | 0.55% |
| p.Gly863Ala | c. 2588 G>C | 11 | 3.04% |
| p.Val931Met | c. 2791 G>A | 1 | 0.28% |
| p.Asn965Ser | c. 2894 A>G | 4 | 1.10% |
| p.Val989Ala | c. 2966 T>C | 1 | 0.28% |
| p.Gly991Arg | c. 2971 G>C | 1 | 0.28% |
| p.Thr1019Met | c. 3056 C>T | 1 | 0.28% |
| p.Ala1038Val | c. 3113 C>T | 3 | 0.83% |
| p.Glu1087Lys | c. 3259 G>A | 1 | 0.28% |
| p.Arg1108Cys | c. 3322 C>T | 2 | 0.55% |
| p.Leu1201Arg | c. 3602 T>G | 4 | 1.10% |
| p.Arg1300Gln | c. 3899 G>A | 4 | 1.10% |
| p.Pro1380Leu | c. 4139 C>T | 3 | 0.83% |
| p.Trp1408Arg | c. 4222 T>C | 1 | 0.28% |
| - | c. 4253+5G>A | 1 | 0.28% |
| p.Phe1440Ser | c. 4319 T>C | 1 | 0.28% |
| p.Arg1443His | c. 4328 G>A | 1 | 0.28% |
| p.Cys1490Tyr | c.4469 G>A | 54 | 14.92% |
| p.Gln1513Pro fs*42 | c. 4535 insC | 1 | 0.28% |
| p.Ala1598Asp | c. 4793C>A | 1 | 0.28% |
| p.Arg1640Trp | c. 4918 C>T | 2 | 0.55% |
| p.Ser1642Arg | c. 4926 C>G | 1 | 0.28% |
| p.V1681_C1685del | c. 5041 del15 | 1 | 0.28% |
| - | c. 5461–10T>C | 24 | 6.63% |
| - | c. 5714+5 G>A | 2 | 0.55% |
| p.Pro1948Leu | c. 5843 C>T | 1 | 0.28% |
| p.Gly1961Glu | c. 5882 G>A | 4 | 1.10% |
| p.Leu2027Phe | c.6079 C>T | 30 | 8.29% |
| p.Arg2030* | c. 6088 C>T | 1 | 0.28% |
| p.Arg2030Gln | c. 6089 G>A | 3 | 0.83% |
| p.Arg2038Trp | c. 6112 C>T | 1 | 0.28% |
| p.Arg2107His | c. 6320 G>A | 2 | 0.55% |
| p.Arg2118Glu fs*27 | c. 6352 delA | 1 | 0.28% |
| p.Cys2150Tyr | c. 6449 G>A | 1 | 0.28% |
| p.Gln2220* | c. 6658 C>T | 1 | 0.28% |