Intramural Research
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Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
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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
