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Intramural Research > Online Research Resources > X-linked SCID mutation database (IL2RGbase)

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
Missense7 [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 shift1 [1] 6 [2] 2 [2] 5 [4] 2 [2] 2 [2]   18 [13]
Insertion, in frame 1 [1]   1 [1]
Deletion, frame shift2 [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 processing5 [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]
Total15 [11] 29 [23] 71 [46] 48 [38] 93 [37] 37 [18] 35 [14] 10 [8]   6 344 [198]

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