Table 3.
Rare Sequence Variants in the ABCA4 Gene
|
No. of Alleles |
|||||
| Exon andNucleotideChange | Effect | STGD(288) | AMD(400) | Control(440) | Reference(s) |
| 5: | |||||
| 455G→A | R152Q | 3 | 1 | 3 | This study |
| 8: | |||||
| IVS8+38A→T | Unknown | 0 | 1 | 0 | This study |
| 12: | |||||
| 1654G→A | V552I | 0 | 0 | 2 | This study |
| IVS11−6C→G | Unknown | 0 | 4 | 2 | This study |
| 13: | |||||
| 1932C→T | D644D | 2 | 0 | 0 | This study |
| 17: | |||||
| IVS16−12C→G | Unknown | 0 | 0 | 8 | This study |
| 18: | |||||
| IVS17−56C→G | Unknown | 3 | 0 | 0 | This study |
| IVS17−36C→T | Unknown | 0 | 2 | 1 | This study |
| 22: | |||||
| 3261A→C | E1087D | 1 | 0 | 0 | This study |
| 3264C→T | P1088P | 0 | 0 | 1 | This study |
| IVS21−20C→T | Unknown | 1 | 0 | 0 | This study |
| 23: | |||||
| IVS23+10T→G | Unknown | 1 | 0 | 0 | This study |
| IVS23+17G→C | Unknown | 1 | 0 | 0 | This study |
| 24: | |||||
| IVS23−28T→C | Unknown | 2 | 4 | 1 | This study |
| 25: | |||||
| 3759G→A | T1253T | 1 | 0 | 0 | This study |
| 28: | |||||
| 4140G→A | P1380P | 2 | 0 | 0 | This study |
| IVS28+43G→A | Unknown | 4 | 3 | 1 | This study |
| 29: | |||||
| IVS29+13G→A | Unknown | 0 | 1 | 0 | This study |
| IVS29+32A→G | Unknown | 1 | 0 | 0 | This study |
| 31: | |||||
| 4578G→A | T1526T | 0 | 1 | 0 | This study |
| 32: | |||||
| IVS32+45T→C | Unknown | 1 | 0 | 0 | This study |
| 33: | |||||
| IVS32−57T→G | Unknown | 0 | 0 | 1 | This study |
| 4685T→C | I1562T | 0 | 0 | 6 | Allikmets et al. (1997b) |
| 36: | |||||
| IVS36+20G→A | Unknown | 1 | 0 | 0 | This study |
| 39: | |||||
| 5487G→T | L1829L | 0 | 0 | 1 | This study |
| IVS38−10T→C | Unknown | 9 | 0 | 0 | Maugeri et al. (1999) |
| 41: | |||||
| 5761G→A | V1921M | 1 | 1 | 1 | This study |
| 43: | |||||
| 5908C→T | L1970F | 1 | 0 | 1 | Allikmets et al. (1997b), Rozet et al. (1998), Lewis et al. (1999) |
| IVS43+7A→C | Unknown | 1 | 0 | 0 | This study |
| 44: | |||||
| 6027C→T | I2023I | 1 | 0 | 0 | Allikmets et al. (1997a), Nasonkin et al. (1998) |
| 45: | |||||
| 6176G→C | G2059A | 0 | 0 | 1 | This study |
| 46: | |||||
| IVS46+27G→A | Unknown | 0 | 0 | 1 | This study |
| 47: | |||||
| IVS46−46T→A | Unknown | 1 | 0 | 0 | This study |
| 48: | |||||
| IVS48+21C→T | Unknown | 18a | 2a | 0 | Allikmets et al. (1997b), Nasonkin et al. (1998), Papaioannou et al. (2000) |
| 6529G→A | D2177N | 2 | 3 | 4 | Allikmets et al. (1997b) |
| 6721C→G | L2241V | 1 | 0 | 0 | This study |
a
Occurs together with G1961E in 17/18 and 2/2 instances.