 |
 |
|||||||||||||||||||
|
||||||||||||||||||||
 |
 |
All mutations per protein domain
(including complex mutations involving more than 1 exon)
Mutations in SNCA
 | ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
25 ( |
100.0) |
50 ( |
100.0) |
1 ( |
100.0) |
1 ( |
100.0) |
 | ||||||||
Total |
25 |
50 |
1 |
1 |
||||
| ||||||||
Mutations in LRRK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
6 ( |
100.0) |
939 ( |
99.9) |
66 ( |
97.1) |
103 ( |
96.3) |
N-term |
9 ( |
13.2) |
11 ( |
10.3) |
||||
Ankyrin-like |
4 ( |
5.9) |
9 ( |
8.4) |
||||
L1 |
3 ( |
4.4) |
3 ( |
2.8) |
||||
LRR |
11 ( |
16.2) |
21 ( |
19.6) |
||||
L2 |
1 ( |
1.5) |
2 ( |
1.9) |
||||
ROC |
3 ( |
50.0) |
162 ( |
17.2) |
7 ( |
10.3) |
16 ( |
15.0) |
COR |
1 ( |
16.7) |
2 ( |
0.2) |
13 ( |
19.1) |
19 ( |
17.8) |
Kinase |
2 ( |
33.3) |
775 ( |
82.4) |
6 ( |
8.8) |
6 ( |
5.6) |
L3 |
2 ( |
2.9) |
2 ( |
1.9) |
||||
WD40 |
11 ( |
16.2) |
16 ( |
15.0) |
||||
| ||||||||
Total |
6 |
940 |
68 |
107 |
||||
| ||||||||
Mutations in PARK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
126 ( |
99.2) |
606 ( |
99.8) |
57 ( |
87.7) |
200 ( |
94.3) |
UBL |
41 ( |
32.3) |
306 ( |
50.4) |
12 ( |
18.5) |
21 ( |
9.9) |
L1 |
55 ( |
43.3) |
390 ( |
64.3) |
17 ( |
26.2) |
26 ( |
12.3) |
ring1 |
33 ( |
26.0) |
136 ( |
22.4) |
14 ( |
21.5) |
93 ( |
43.9) |
L2 |
16 ( |
12.6) |
54 ( |
8.9) |
5 ( |
7.7) |
5 ( |
2.4) |
IBR |
22 ( |
17.3) |
52 ( |
8.6) |
7 ( |
10.8) |
5 ( |
2.4) |
L3 |
14 ( |
11.0) |
24 ( |
4.0) |
4 ( |
6.2) |
20 ( |
9.4) |
ring2 |
13 ( |
10.2) |
29 ( |
4.8) |
4 ( |
6.2) |
40 ( |
18.9) |
C-term |
6 ( |
4.7) |
7 ( |
1.2) |
2 ( |
3.1) |
3 ( |
1.4) |
| ||||||||
Total |
127 |
607 |
65 |
212 |
||||
| ||||||||
Mutations in PINK1
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
28 ( |
100.0) |
65 ( |
100.0) |
77 ( |
96.3) |
123 ( |
98.4) |
Transit |
2 ( |
7.1) |
2 ( |
3.1) |
4 ( |
5.0) |
4 ( |
3.2) |
L1 |
2 ( |
7.1) |
2 ( |
3.1) |
1 ( |
1.3) |
1 ( |
0.8) |
Transmembrane Domain |
1 ( |
3.6) |
1 ( |
1.5) |
1 ( |
1.3) |
1 ( |
0.8) |
L2 |
3 ( |
10.7) |
5 ( |
7.7) |
8 ( |
10.0) |
9 ( |
7.2) |
Kinase |
20 ( |
71.4) |
55 ( |
84.6) |
58 ( |
72.5) |
101 ( |
80.8) |
C-term |
8 ( |
28.6) |
11 ( |
16.9) |
5 ( |
6.3) |
7 ( |
5.6) |
| ||||||||
Total |
28 |
65 |
80 |
125 |
||||
| ||||||||
Mutations in PARK7
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
6 ( |
100.0) |
10 ( |
100.0) |
14 ( |
82.4) |
13 ( |
72.2) |
| ||||||||
Total |
6 |
10 |
17 |
18 |
||||
| ||||||||
Simple mutations per protein domain
(excluding complex mutations involving more than 1 exon)
Mutations in SNCA
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
3 ( |
100.0) |
24 ( |
100.0) |
1 ( |
100.0) |
1 ( |
100.0) |
| ||||||||
Total |
3 |
24 |
1 |
1 |
||||
| ||||||||
Mutations in LRRK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
6 ( |
50.0) |
939 ( |
50.0) |
66 ( |
50.0) |
103 ( |
49.8) |
N-term |
9 ( |
6.8) |
11 ( |
5.3) |
||||
Ankyrin-like |
4 ( |
3.0) |
9 ( |
4.3) |
||||
L1 |
3 ( |
2.3) |
3 ( |
1.4) |
||||
LRR |
11 ( |
8.3) |
21 ( |
10.1) |
||||
L2 |
1 ( |
0.8) |
2 ( |
1.0) |
||||
ROC |
3 ( |
25.0) |
162 ( |
8.6) |
7 ( |
5.3) |
16 ( |
7.7) |
COR |
1 ( |
8.3) |
2 ( |
0.1) |
13 ( |
9.8) |
19 ( |
9.2) |
Kinase |
2 ( |
16.7) |
775 ( |
41.3) |
5 ( |
3.8) |
5 ( |
2.4) |
L3 |
2 ( |
1.5) |
2 ( |
1.0) |
||||
WD40 |
11 ( |
8.3) |
16 ( |
7.7) |
||||
| ||||||||
Total |
12 |
1878 |
132 |
207 |
||||
| ||||||||
Mutations in PARK2
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
118 ( |
61.1) |
592 ( |
60.2) |
56 ( |
50.0) |
199 ( |
49.6) |
UBL |
18 ( |
9.3) |
122 ( |
12.4) |
11 ( |
9.8) |
20 ( |
5.0) |
L1 |
23 ( |
11.9) |
171 ( |
17.4) |
15 ( |
13.4) |
22 ( |
5.5) |
ring1 |
10 ( |
5.2) |
44 ( |
4.5) |
13 ( |
11.6) |
92 ( |
22.9) |
L2 |
2 ( |
1.0) |
2 ( |
0.2) |
4 ( |
3.6) |
4 ( |
1.0) |
IBR |
9 ( |
4.7) |
26 ( |
2.6) |
6 ( |
5.4) |
4 ( |
1.0) |
L3 |
5 ( |
2.6) |
6 ( |
0.6) |
3 ( |
2.7) |
19 ( |
4.7) |
ring2 |
6 ( |
3.1) |
17 ( |
1.7) |
3 ( |
2.7) |
39 ( |
9.7) |
C-term |
2 ( |
1.0) |
3 ( |
0.3) |
1 ( |
0.9) |
2 ( |
0.5) |
| ||||||||
Total |
193 |
983 |
112 |
401 |
||||
| ||||||||
Mutations in PINK1
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
24 ( |
50.0) |
61 ( |
49.2) |
77 ( |
50.0) |
123 ( |
50.0) |
Transit |
1 ( |
2.1) |
1 ( |
0.8) |
4 ( |
2.6) |
4 ( |
1.6) |
L1 |
1 ( |
2.1) |
1 ( |
0.8) |
1 ( |
0.6) |
1 ( |
0.4) |
Transmembrane Domain |
1 ( |
0.6) |
1 ( |
0.4) |
||||
L2 |
2 ( |
4.2) |
4 ( |
3.2) |
8 ( |
5.2) |
9 ( |
3.7) |
Kinase |
16 ( |
33.3) |
51 ( |
41.1) |
58 ( |
37.7) |
101 ( |
41.1) |
C-term |
4 ( |
8.3) |
6 ( |
4.8) |
5 ( |
3.2) |
7 ( |
2.8) |
| ||||||||
Total |
48 |
124 |
154 |
246 |
||||
| ||||||||
Mutations in PARK7
| ||||||||
Pathogenic |
Unclear |
|||||||
|
|
|
||||||
Region |
Mutations |
Families |
Mutations |
Families |
||||
| ||||||||
Complete CDS |
2 ( |
100.0) |
2 ( |
100.0) |
14 ( |
100.0) |
13 ( |
100.0) |
| ||||||||
Total |
2 |
2 |
14 |
13 |
||||
| ||||||||
|
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