Table 2. HSF4 mutations in 150 sporadic age related cataract patients.
| Sequence variants | Amino acid changes |
Case/patient |
Age (gender)/patient |
|---|---|---|---|
| Case/control | Age (gender)/control | ||
| c.1019+9C>T |
None |
3/150 |
78 (M), 52 (F), 68 (F) |
| Heterozygous |
3/100 |
40 (F), 35 (F), 44 (M) |
|
| c.1020–25G>A |
None |
1/150 |
62 (F) |
| Heterozygous |
0/220 |
||
| c.1078A>G |
Gln→Arg |
2/150 |
77 (F), 56 (M) |
| Heterozygous |
0/220 |
||
| c.1223C>T |
None |
2/150 |
48 (F), 62 (M) |
| Heterozygous |
0/220 |
||
| c.1243G>A |
Arg→His |
3/150 |
69 (F), 60 (F), 59 (F) |
| Heterozygous |
2/100 |
46 (M), 40 (F) |
|
| c.1256+25C>T |
None |
1/150 |
70 (M) |
| Heterozygous |
0/220 |
||
| c.1286C>T |
None |
1/150 |
55 (F) |
| Heterozygous | 0/220 |
Note. M: Male, F: Female. Substitutions c.1020–25G>A, c.1078A>G, c.1223C>T, c.1256+25C>T and c.1286C>T were not represented in 220 control individuals, substitutions c.1019+9C>T and c.1243G>A were also presented in control subjects.