Distribution of FAS (TNFRSF6) Mutations
In 69 unrelated families, a total of 62 unique mutations have been reported.
*Total mutations [Unique mutations]
|
Ex/Int 1 |
Ex/Int 2 |
Ex/Int 3 |
Ex/Int 4 |
Ex/Int 5 |
Ex/Int 6 |
Ex/Int 7 |
Ex/Int 8 |
Ex 9 |
Total |
Missense |
|
1 |
2 |
1 |
|
1 |
|
|
22 [20] |
27 [25] |
Nonsense |
|
2 |
2 |
|
|
|
1 |
|
5 [3] |
10 [8] |
Insertion: Fr Shift |
|
1 |
|
|
|
|
|
|
3 |
4 |
Deletion: Fr Shift |
|
2 [1] |
1 |
|
|
|
1 |
|
5 |
9 [8] |
Splice |
1 |
|
3 |
1 |
|
1 |
3 |
5 [3] |
|
14 [12] |
Complex |
|
|
|
1 |
1 |
|
|
|
2 |
4 |
Large Deletions: |
|
|
|
|
|
|
|
|
1 |
1 |
Total |
1 |
6 [5] |
8 |
3 |
1 |
2 |
5 |
5 [3] |
38 [34] |
69 [62] |
Comments, suggestions and problems to
bioinformatics@nhgri.nih.gov
|