Table 1

Prevalence of mutations in the ABCR gene

This studyAllikmets et al3
AMD
(n=80)
Control (n=100)AMD (n=167)General population (n=220)
Mutation
 E471K0 (0%)0 (0%)2 (1.2%)0 (0%)
 R1129L0 (0%)0 (0%)1 (0.6%)0 (0%)
 T1428M7 (8.8%)8 (8.0%)1 (0.6%)0 (0%)
 R1517S0 (0%)0 (0%)1 (0.6%)0 (0%)
 I1562T0 (0%)0 (0%)2 (1.2%)0 (0%)
 G1578R0 (0%)0 (0%)1 (0.6%)0 (0%)
 5196 + 1G0 (0%)0 (0%)1 (0.6%)0 (0%)
→A
 R1898H0 (0%)0 (0%)1 (0.6%)0 (0%)
 G1961E0 (0%)0 (0%)6 (3.6%)0 (0%)
 L1970F0 (0%)0 (0%)1 (0.6%)0 (0%)
 6519Δ11bp0 (0%)0 (0%)1 (0.6%)0 (0%)
 D2177N0 (0%)0 (0%)7 (4.2%)1 (0.45%)
 6568ΔC0 (0%)0 (0%)1 (0.6%)0 (0%)
Totals7 (8.8%)8 (8.0%)26 (16%)1 (0.45%)