This report | 1 | 1040G>A | R347H | Winged helix I |
| 2 | IVS9 + 459 A>G | None | Known variant (GenBank AF235097) |
| 3 | {748delAAG | ΔK250 | Predicted coiled coil domain |
| | 543C>T | S181S | Known variant (GenBank AF235097) |
| | | | |
16
| 1 | 1189C>T | R397W | |
| 2 | del1290-1309/insTGG | GPter> VGKGGWTNRGQTGGRQRWWGQG | Adds tail to Wing-2 of winged helix domain |
| 3 | 1113T>G | F371C | Exon 10 |
| 4 | 1150G>A | A384T | Winged helix |
| | | | |
15, 16 | 1 | No coding region mutation, but A>G in first polyadenylation signal | Reduced levels of normally coded mRNA | Attenuated phenotype |
| | | | |
15
| 1 | 1150G>A | A384T | Winged helix |
15
| 2 | 1293delCT | ter432T (+ 25 residues) | Adds tail to Wing-2 of winged helix domain |
| | | | |
12
| 100 | IVS9 + 4 A>G | Exon 9 skipped; frameshift at codon 273, stop at 286. | Eliminates winged helix domain |
| 200 | 600delGGA | ΔE201 | 3-heptad, myc-like zip motif |
| | | | |
17
| 1 | 227delT | Frameshift, stop at 128 | Eliminates all structural domains |
| 2 | A1087G | I363V | Winged helix II |