Table 3 The mutations found in patients carrying only one heterozygous mutation.
Patient | Mutation | Residual activity (%WT) | Dominant negative effect (%WT) | Parent carrier | Clinical symptoms in the parent carrier | Haplotypes | Trans or cis | Clin. form |
|---|---|---|---|---|---|---|---|---|
1 | p.G456W | 0.8 | 14.5 | F | no | A/A | - | Ch |
2 | p.G420A | 4.2 | 19.7 | ? | no | A/C | - | Od |
3 | p.D378V | 1.2 | 19.9 | F | no | A/E | Cis likely | Ch |
4 | p.L414M | 0.4 | 23.5 | M | ? | A/C | - | Od |
5 | p.P108L | 1.9 | 24.0 | M | yes | A/E | trans | Od |
6 | p.N417S | 3.0 | 26.5 | M | no | A/A | - | Od |
7 | p.N417S | 3.0 | 26.5 | F | yes | A/E | trans | Od |
8 | p.N417S | 3.0 | 26.5 | ? | no | A/A | - | Ad |
9 | p.N417S | 3.0 | 26.5 | F | yes | A/A | - | Od |
10 | p.E452K | 1.4 | 27.5 | M | yes | A/B | - | Ad |
11 | p.T100M | 1.3 | 28.2 | M | no | A/E | Cis | Ch |
12 | p.R391H | 0 | 29.1 | ? | ? | B/E | Cis | Od |
13 | p.V382I | 0a | 30a | F | yes | A/J | - | Pb |
14 | p.R71H | 1.0 | 30.5 | ? | no | A/B | - | Od |
15 | p.R71H | 1.0 | 30.5 | M | ? | A/B | - | Od |
16 | p.R71H | 1.0 | 30.5 | M | no | A/C | - | Od |
17 | p.R71H | 1.0 | 30.5 | M | yes | E/E | Cis/trans | Od |
18 | p.E429K | 1.3 | 31.0 | F | no | B/E | Trans | Od |
19 | p.G339R | 1.1 | 33.0 | F | no | A/B | - | Od |
20 | p.G339R | 1.1 | 33.0 | F | yes | A/B | Od | |
21 | p.G339R | 1.1 | 33.0 | M | yes | B/E | Trans | Od |
22 | p.R71C | 2.5 | 35.0 | F | no | A/A | - | Od |
23 | p.R71C | 2.5 | 35.0 | M | no | A/C | - | Od |
24 | p.S445P | 2.1 | 35.1 | ? | ? | A/C | - | Ad |
25 | p.R184W | 0.6 | 36.7 | ? | ? | A/A | - | Ad |
26 | p.R184W | 0.6 | 36.7 | M | no | A/A | - | Od |
27 | p.R184W | 0.6 | 36.7 | F | yes | A/B | - | Ch |
28 | p.R184W | 0.6 | 36.7 | M | no | A/E | Trans | Od |
29 | p.N478I | 1.5 | 38.2 | ? | no | A/B | - | Ch |
30 | p.G334R | 5.0 | 39.0 | ? | no | A/C | - | Od |
31 | p.E476A | 0.4 | 39.3 | M | ? | A/E | Trans | Ad |
32 | p.G334D | 1.7 | 40.0 | P | no | A/E | Cis | Od |
33 | p.A116T | 0.6 | 40.0 | M | yes | A/E | Trans | Od |
34 | p.I72T | 5.1 | 40.2 | M | no | A/B | - | Od |
35 | p.V459L | 0 | 41.1 | ? | yes | A/A | - | Od |
36 | p.G122S | 4.5 | 43.6 | F | ? | A/A | - | Od |
37 | p.A111T | 2.0 | 48.7 | F | yes | E/E | Cis/trans | Od |
38 | p.R391C | 3.75 | 50.5 | M | ? | B/E | Trans | Ch |
39 | p.G456R | 1.5 | 50.5 | ? | no | A/D | - | Ad |
40 | p.G456R | 1.5 | 50.5 | ? | yes | A/A | - | Od |
41 | p.G456R | 1.5 | 50.5 | F | ? | A/E | Cis | Ch |
42 | p.A443V | 1.38 | 53.1 | ? | no | A/A | - | Ad |
43 | p.A176T | 30.2 | 58.0 | ? | ? | A/A | - | Ad |
44 | p.R136H | 33.4 | 70.0 | ? | ? | A/E | - | Ad |
45 | p.G249V | 34.5 | 70.5 | F | yes | A/C | - | Ch |
46 | p.I490F | 37.1 | 77.4 | ? | no | A/E | - | Ad |
47 | p.E191K | 56.0 | 79.5 | M | no | A/A | - | Od |