Table 2. Clinical and genetics information of mutation carriers.
| Ind. ID | Age | Sex | Family history | Age at onset | Site at onset | Dystonia at examination | Speech affected | Mutation | PolyPhen-2 prediction19 (score) | SIFT prediction (score) | THAP1 activity (luciferase assay) (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| L3641 | 59 | F | Pos. | 49 | Neck | Focal | No | c.570delA p. Asp191Thrfs*9 | n.a. | n.a. | n.a. |
| L3841 | 32 | F | Neg. | 8 | Neck | Generalized | Yes (mild) | c.70A>G p.Lys24Glu | Benign (0.100) | Affects function (0.03) | 60 |
| L3969 | 30 | M | Neg. | 6 | Arm | Generalized | Yes | c.38G>A p.Arg13His | Probably damaging (0.989) | Affects function (0.02) | 80 |
| L4071 | 46 | F | Neg. | 11 | Neck | Generalized | Yes | c.46A>G p.Lys16Glu | Probably damaging (0.914) | Affects function (0.03) | 60 |
| L4155 | 33 | M | Pos. | 9 | Arm | Segmental | No | c.68A>C p.His23Pro | Possibly damaging (0.612) | Affects function (0.00) | 20 |
| L4318 | 56 | M | Pos. | 10 | Arm | Segmental | Yes | c.77C>T p.Pro26Leu | Probably damaging (0.994) | Affects function (0.00) | 40 |
| L4325 | 35 | M | Neg. | 33 | Arm | Focal (Musicians' dystonia) | No | c.-32C>T (5′UTR) | n.a. | n.a. | n.a. |
| L4455 | 33 | M | Neg. | 19 | Arm | Generalizeda | Yes (aphonia) | c.(*1A>G (+) *10A>T) (3′UTR) | n.a. | n.a. | n.a. |
| L4457 | 54 | M | Neg. | 41 | Neck | Focal | No | c.238A>G p.Ile80Val | Benign (0.010) | Tolerated (0.79) | 100 |
a
Improvement of 20% by Levodopa intake.