Table 2.
Sequence Change | ProteinChange | Exon | Allele Frequencyin Controls(%) |
52-60delCTGCTGCTG | L18-L20del | 1 | (Leu)6:1 (Leu)9:99 |
60-61dupCTG | L20dup | 1 | (Leu)9:95 (Leu)10:5 |
266A→G | Q89Ra | 2 | A:100 G:0 |
333C→T | D111D | 2 | C:100 T:0 |
1602G→A | T534T | 8 | G:100 A:0 |
1647C→T | F549F | 8 | C:94 T:6 |
1932G→A | E644E | 9 | G:95 A:5 |
1999G→A | V667M | 9 | G:95 A:5 |
2268C→T | N740Na | 10 | C:86 T:14 |
3297C→T | D1099D | 15 | C:100 T:0 |
3357A→G | V1119Va | 15 | A:73 G:27 |
3989C→T | A1330Va | 18 | C:91 T:9 |
4788C→T | T1596T | 23 | C:97 T:3 |
Polymorphism identified by Okubo et al. (2002).