|
Distribution of IL2RG Mutations Causing X-SCID
Total mutations [unique mutations]
|
Exon 1 |
Exon 2 |
Exon 3 |
Exon 4 |
Exon 5 |
Exon 6 |
Exon 7 |
Exon 8 |
Large Deletions |
Total |
Missense | 7 [4] |
14 [10] |
21 [16] |
18 [14] |
62 [15] |
2 [2] |
1 [1] |
|
|
125 [62] |
Nonsense | |
5 [3] |
20 [12] |
11 [8] |
13 [7] |
|
20 [3] |
4 [2] |
|
73 [35] |
Insertion, frame shift | 1 [1] |
|
6 [2] |
2 [2] |
5 [4] |
2 [2] |
2 [2] |
|
|
18 [13] |
Insertion, in frame | |
|
|
|
1 [1] |
|
|
|
|
1 [1] |
Deletion, frame shift | 2 [2] |
5 [5] |
11 [10] |
2 [2] |
9 [7] |
10 [6] |
3 [3] |
2 [2] |
|
44 [37] |
Deletion, in frame | |
|
|
2 [2] |
1 [1] |
|
|
|
|
3 [3] |
Complex | |
1 [1] |
4 [3] |
3 [3] |
|
|
|
|
|
8 [7] |
RNA processing | 5 [4] |
3 [3] |
9 [3] |
10 [7] |
2 [2] |
23 [8] |
9 [5] |
4 [4] |
|
65 [36] |
Large deletion | |
|
|
|
|
|
|
|
6 |
6 [3] |
Polymorphism | |
1 [1] |
|
|
|
|
|
|
|
[1] |
Total | 15 [11] |
29 [23] |
71 [46] |
48 [38] |
93 [37] |
37 [18] |
35 [14] |
10 [8] |
6 |
344 [198] |
|
Comments, suggestions and problems to
bioinformatics@nhgri.nih.gov
|
|