Table 5 of
Roberts, Mol Vis 2012; 18:280-289. Table 5 of
Roberts, Mol Vis 2012; 18:280-289.
Table 5. The results from screening both the patient and control cohort for seven ABCA4 mutations, showing the number and frequency of mutant alleles detected per mutation.
| Mutant alleles | |||||||
|---|---|---|---|---|---|---|---|
| Cohort | p.Cys1490Tyr | p.Arg602Trp | p.Leu2027Phe | c.5461–10T>C | c.768G>T | p.Gly863Ala | p.Arg152* |
| Patient (n=72; 144 alleles) | 16 (11.11%) | 10 (6.94%) | 12 (8.33%) | 13 (9.03%) | 13 (9.03%) | 7 (4.86%) | 7 (4.86%) |
| Control (total; n=269; 538 alleles) | 2 (0. 37%) | 2 (0. 37%) | 2 (0. 37%) | 0 | 2 (0. 37%) | 3 (0.56%) | 1 (0.19%) |
| a) Caucasian (n=100; 200 alleles) | 0 | 0 | 1 (0.5%) | 0 | 1 (0.5%) | 2 (1%) | 0 |
| b) Afrikaner (n=169; 338 alleles) | 2 (0.59%) | 2 (0.59%) | 1 (0.296%) | 0 | 1 (0.296%) | 1 (0.296%) | 1 (0.296%) |