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Autoimmune Lymphoproliferative Syndrome (ALPS)

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]

Back to Database of Mutations

Last Updated December 30, 2009