 |
 |
|||||||||||||||||||
|
||||||||||||||||||||
 |
 |
All mutations per gene region
(including complex mutations involving more than 1 exon)
Mutations in SNCA
 | ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
22 ( |
88.0) |
26 ( |
52.0) |
||||
EX2 |
23 ( |
92.0) |
27 ( |
54.0) |
||||
IVS2 |
22 ( |
88.0) |
26 ( |
52.0) |
1 ( |
100.0) |
1 ( |
100.0) |
EX3 |
24 ( |
96.0) |
49 ( |
98.0) |
||||
EX4 |
22 ( |
88.0) |
26 ( |
52.0) |
||||
EX5 |
22 ( |
88.0) |
26 ( |
52.0) |
||||
EX6 |
22 ( |
88.0) |
26 ( |
52.0) |
||||
 | ||||||||
Total |
25 |
50 |
1 |
1 |
||||
| ||||||||
Mutations in LRRK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
3 ( |
4.4) |
5 ( |
4.7) |
||||
EX2 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX6 |
1 ( |
1.5) |
2 ( |
1.9) |
||||
EX9 |
3 ( |
4.4) |
4 ( |
3.7) |
||||
EX13 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX14 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX16 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX18 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX19 |
2 ( |
2.9) |
7 ( |
6.5) |
||||
EX21 |
2 ( |
2.9) |
2 ( |
1.9) |
||||
EX23 |
2 ( |
2.9) |
2 ( |
1.9) |
||||
EX24 |
4 ( |
5.9) |
9 ( |
8.4) |
||||
EX25 |
2 ( |
2.9) |
3 ( |
2.8) |
||||
EX26 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX27 |
1 ( |
1.5) |
2 ( |
1.9) |
||||
EX29 |
2 ( |
2.9) |
6 ( |
5.6) |
||||
EX30 |
1 ( |
1.5) |
7 ( |
6.5) |
||||
EX31 |
3 ( |
50.0) |
162 ( |
17.2) |
4 ( |
5.9) |
4 ( |
3.7) |
EX34 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX35 |
1 ( |
16.7) |
2 ( |
0.2) |
||||
EX36 |
3 ( |
4.4) |
3 ( |
2.8) |
||||
EX37 |
2 ( |
2.9) |
2 ( |
1.9) |
||||
EX38 |
3 ( |
4.4) |
4 ( |
3.7) |
||||
EX40 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX41 |
2 ( |
33.3) |
775 ( |
82.4) |
3 ( |
4.4) |
3 ( |
2.8) |
EX44 |
5 ( |
7.4) |
7 ( |
6.5) |
||||
EX48 |
3 ( |
4.4) |
6 ( |
5.6) |
||||
EX49 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX50 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
EX51 |
1 ( |
1.5) |
1 ( |
0.9) |
||||
| ||||||||
Total |
6 |
940 |
68 |
107 |
||||
| ||||||||
Mutations in PARK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
18 ( |
14.2) |
99 ( |
16.3) |
5 ( |
7.7) |
7 ( |
3.3) |
IVS1 |
16 ( |
12.6) |
97 ( |
16.0) |
1 ( |
1.5) |
1 ( |
0.5) |
EX2 |
38 ( |
29.9) |
302 ( |
49.8) |
11 ( |
16.9) |
20 ( |
9.4) |
IVS2 |
24 ( |
18.9) |
227 ( |
37.4) |
2 ( |
3.1) |
2 ( |
0.9) |
EX3 |
34 ( |
26.8) |
308 ( |
50.7) |
4 ( |
6.2) |
11 ( |
5.2) |
IVS3 |
28 ( |
22.0) |
255 ( |
42.0) |
1 ( |
1.5) |
1 ( |
0.5) |
EX4 |
39 ( |
30.7) |
303 ( |
49.9) |
6 ( |
9.2) |
7 ( |
3.3) |
IVS4 |
32 ( |
25.2) |
202 ( |
33.3) |
3 ( |
4.6) |
2 ( |
0.9) |
EX5 |
37 ( |
29.1) |
253 ( |
41.7) |
2 ( |
3.1) |
2 ( |
0.9) |
IVS5 |
27 ( |
21.3) |
114 ( |
18.8) |
2 ( |
3.1) |
2 ( |
0.9) |
EX6 |
34 ( |
26.8) |
155 ( |
25.5) |
7 ( |
10.8) |
8 ( |
3.8) |
IVS6 |
20 ( |
15.7) |
79 ( |
13.0) |
1 ( |
1.5) |
1 ( |
0.5) |
EX7 |
29 ( |
22.8) |
123 ( |
20.3) |
9 ( |
13.8) |
86 ( |
40.6) |
IVS7 |
20 ( |
15.7) |
81 ( |
13.3) |
3 ( |
4.6) |
4 ( |
1.9) |
EX8 |
23 ( |
18.1) |
87 ( |
14.3) |
5 ( |
7.7) |
5 ( |
2.4) |
IVS8 |
14 ( |
11.0) |
52 ( |
8.6) |
2 ( |
3.1) |
2 ( |
0.9) |
EX9 |
26 ( |
20.5) |
85 ( |
14.0) |
3 ( |
4.6) |
2 ( |
0.9) |
IVS9 |
13 ( |
10.2) |
26 ( |
4.3) |
5 ( |
7.7) |
3 ( |
1.4) |
EX10 |
16 ( |
12.6) |
34 ( |
5.6) |
3 ( |
4.6) |
3 ( |
1.4) |
IVS10 |
10 ( |
7.9) |
19 ( |
3.1) |
1 ( |
1.5) |
1 ( |
0.5) |
EX11 |
15 ( |
11.8) |
25 ( |
4.1) |
4 ( |
6.2) |
20 ( |
9.4) |
IVS11 |
8 ( |
6.3) |
15 ( |
2.5) |
1 ( |
1.5) |
1 ( |
0.5) |
EX12 |
13 ( |
10.2) |
28 ( |
4.6) |
9 ( |
13.8) |
49 ( |
23.1) |
| ||||||||
Total |
127 |
607 |
65 |
212 |
||||
| ||||||||
Mutations in PINK1
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
5 ( |
17.9) |
7 ( |
10.8) |
13 ( |
16.3) |
10 ( |
8.0) |
EX2 |
4 ( |
14.3) |
5 ( |
7.7) |
10 ( |
12.5) |
13 ( |
10.4) |
EX3 |
6 ( |
21.4) |
10 ( |
15.4) |
8 ( |
10.0) |
8 ( |
6.4) |
EX4 |
5 ( |
17.9) |
8 ( |
12.3) |
11 ( |
13.8) |
20 ( |
16.0) |
EX5 |
4 ( |
14.3) |
5 ( |
7.7) |
9 ( |
11.3) |
17 ( |
13.6) |
EX6 |
5 ( |
17.9) |
6 ( |
9.2) |
11 ( |
13.8) |
26 ( |
20.8) |
EX7 |
13 ( |
46.4) |
41 ( |
63.1) |
10 ( |
12.5) |
23 ( |
18.4) |
EX8 |
9 ( |
32.1) |
12 ( |
18.5) |
6 ( |
7.5) |
8 ( |
6.4) |
| ||||||||
Total |
28 |
65 |
80 |
125 |
||||
| ||||||||
Mutations in PARK7
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
3 ( |
50.0) |
7 ( |
70.0) |
1 ( |
5.9) |
2 ( |
11.1) |
EX2 |
3 ( |
50.0) |
7 ( |
70.0) |
2 ( |
11.8) |
2 ( |
11.1) |
EX3 |
3 ( |
50.0) |
7 ( |
70.0) |
2 ( |
11.8) |
2 ( |
11.1) |
EX4 |
4 ( |
66.7) |
6 ( |
60.0) |
1 ( |
5.9) |
1 ( |
5.6) |
IVS4 |
4 ( |
66.7) |
6 ( |
60.0) |
1 ( |
5.9) |
1 ( |
5.6) |
EX5 |
4 ( |
66.7) |
6 ( |
60.0) |
1 ( |
5.9) |
1 ( |
5.6) |
IVS5 |
4 ( |
66.7) |
6 ( |
60.0) |
1 ( |
5.9) |
1 ( |
5.6) |
EX6 |
3 ( |
50.0) |
3 ( |
30.0) |
||||
EX7 |
2 ( |
33.3) |
2 ( |
20.0) |
8 ( |
47.1) |
8 ( |
44.4) |
| ||||||||
Total |
6 |
10 |
17 |
18 |
||||
| ||||||||
Simple mutations per gene region
(excluding complex mutations involving more than 1 exon)
Mutations in SNCA
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX2 |
1 ( |
33.3) |
1 ( |
4.2) |
||||
IVS2 |
1 ( |
100.0) |
1 ( |
100.0) |
||||
EX3 |
2 ( |
66.7) |
23 ( |
95.8) |
||||
| ||||||||
Total |
3 |
24 |
1 |
1 |
||||
| ||||||||
Mutations in LRRK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
3 ( |
5.3) |
5 ( |
5.6) |
||||
EX2 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX6 |
1 ( |
1.8) |
2 ( |
2.2) |
||||
EX9 |
3 ( |
5.3) |
4 ( |
4.5) |
||||
EX13 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX14 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX16 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX18 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX19 |
2 ( |
3.5) |
7 ( |
7.9) |
||||
EX21 |
2 ( |
3.5) |
2 ( |
2.2) |
||||
EX23 |
2 ( |
3.5) |
2 ( |
2.2) |
||||
EX24 |
4 ( |
7.0) |
9 ( |
10.1) |
||||
EX25 |
2 ( |
3.5) |
3 ( |
3.4) |
||||
EX26 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX27 |
1 ( |
1.8) |
2 ( |
2.2) |
||||
EX29 |
2 ( |
3.5) |
6 ( |
6.7) |
||||
EX30 |
1 ( |
1.8) |
7 ( |
7.9) |
||||
EX31 |
3 ( |
50.0) |
162 ( |
17.3) |
4 ( |
7.0) |
4 ( |
4.5) |
EX34 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX35 |
1 ( |
16.7) |
2 ( |
0.2) |
||||
EX36 |
3 ( |
5.3) |
3 ( |
3.4) |
||||
EX37 |
2 ( |
3.5) |
2 ( |
2.2) |
||||
EX38 |
3 ( |
5.3) |
4 ( |
4.5) |
||||
EX40 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX41 |
2 ( |
33.3) |
775 ( |
82.5) |
3 ( |
5.3) |
3 ( |
3.4) |
EX44 |
5 ( |
8.8) |
7 ( |
7.9) |
||||
EX48 |
3 ( |
5.3) |
6 ( |
6.7) |
||||
EX49 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX50 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
EX51 |
1 ( |
1.8) |
1 ( |
1.1) |
||||
| ||||||||
Total |
6 |
939 |
57 |
89 |
||||
| ||||||||
Mutations in PARK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
2 ( |
3.4) |
2 ( |
0.9) |
4 ( |
6.6) |
6 ( |
2.8) |
EX2 |
11 ( |
19.0) |
75 ( |
33.2) |
10 ( |
16.4) |
19 ( |
8.9) |
IVS2 |
1 ( |
1.6) |
1 ( |
0.5) |
||||
EX3 |
4 ( |
6.9) |
31 ( |
13.7) |
3 ( |
4.9) |
10 ( |
4.7) |
EX4 |
2 ( |
3.4) |
2 ( |
0.9) |
5 ( |
8.2) |
6 ( |
2.8) |
IVS4 |
2 ( |
3.3) |
1 ( |
0.5) |
||||
EX5 |
3 ( |
5.2) |
26 ( |
11.5) |
1 ( |
1.6) |
1 ( |
0.5) |
IVS5 |
1 ( |
1.6) |
1 ( |
0.5) |
||||
EX6 |
7 ( |
12.1) |
27 ( |
11.9) |
6 ( |
9.8) |
7 ( |
3.3) |
EX7 |
4 ( |
6.9) |
8 ( |
3.5) |
8 ( |
13.1) |
85 ( |
39.9) |
IVS7 |
1 ( |
1.7) |
1 ( |
0.4) |
1 ( |
1.6) |
2 ( |
0.9) |
EX8 |
2 ( |
3.4) |
2 ( |
0.9) |
3 ( |
4.9) |
3 ( |
1.4) |
IVS8 |
1 ( |
1.6) |
1 ( |
0.5) |
||||
EX9 |
8 ( |
13.8) |
25 ( |
11.1) |
1 ( |
1.6) |
1 ( |
0.5) |
IVS9 |
2 ( |
3.3) |
1 ( |
0.5) |
||||
EX10 |
1 ( |
1.7) |
1 ( |
0.4) |
1 ( |
1.6) |
1 ( |
0.5) |
IVS10 |
1 ( |
1.7) |
1 ( |
0.4) |
||||
EX11 |
5 ( |
8.6) |
6 ( |
2.7) |
3 ( |
4.9) |
19 ( |
8.9) |
IVS11 |
1 ( |
1.7) |
3 ( |
1.3) |
||||
EX12 |
6 ( |
10.3) |
16 ( |
7.1) |
8 ( |
13.1) |
48 ( |
22.5) |
| ||||||||
Total |
58 |
226 |
61 |
213 |
||||
| ||||||||
Mutations in PINK1
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
4 ( |
20.0) |
6 ( |
10.0) |
13 ( |
16.7) |
10 ( |
8.0) |
EX2 |
2 ( |
10.0) |
3 ( |
5.0) |
10 ( |
12.8) |
13 ( |
10.4) |
EX3 |
3 ( |
15.0) |
7 ( |
11.7) |
8 ( |
10.3) |
8 ( |
6.4) |
EX4 |
2 ( |
10.0) |
5 ( |
8.3) |
11 ( |
14.1) |
20 ( |
16.0) |
EX5 |
9 ( |
11.5) |
17 ( |
13.6) |
||||
EX6 |
11 ( |
14.1) |
26 ( |
20.8) |
||||
EX7 |
5 ( |
25.0) |
33 ( |
55.0) |
10 ( |
12.8) |
23 ( |
18.4) |
EX8 |
4 ( |
20.0) |
6 ( |
10.0) |
6 ( |
7.7) |
8 ( |
6.4) |
| ||||||||
Total |
20 |
60 |
78 |
125 |
||||
| ||||||||
Mutations in PARK7
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
EX1 |
1 ( |
5.9) |
2 ( |
11.1) |
||||
EX2 |
2 ( |
11.8) |
2 ( |
11.1) |
||||
EX3 |
2 ( |
11.8) |
2 ( |
11.1) |
||||
EX4 |
1 ( |
5.9) |
1 ( |
5.6) |
||||
IVS4 |
1 ( |
5.9) |
1 ( |
5.6) |
||||
EX5 |
1 ( |
5.9) |
1 ( |
5.6) |
||||
IVS5 |
1 ( |
5.9) |
1 ( |
5.6) |
||||
EX7 |
1 ( |
100.0) |
1 ( |
100.0) |
8 ( |
47.1) |
8 ( |
44.4) |
| ||||||||
Total |
1 |
1 |
17 |
18 |
||||
| ||||||||
|
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