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

IL2RGbase

Exon 1 Exon 2 Exon 3 Exon 4 Exon 5 Exon 6 Exon 7 Exon 8 Large deletions

Database of Mutations Causing Human X-Linked SCID - Exon #1
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
15 A-G M1V   change Methionine initiation codon   2 30 ,
JP
 
16 T-C M1T   change Methionine initiation codon   JP
 
17 G-T M1I   change Methionine initiation codon   38
 
17 G-A M1I   change Methionine initiation codon   2 24
 
32 ins A S5fs   insertion, frame shift   JP
 
67 del TG L18fs   deletion, frame shift   24
 
88 del 5 T25fs   deletion, frame shift   JP
 
129 G-A D39N   missense and disruption of RNA splicing   4
 
129(+1) g-a splice   disruption of RNA splicing   24
 
129(+1) g-c splice   disruption of RNA splicing   27
 
129(+2) t-c splice   disruption of RNA splicing   2 24
 
129(+5) g-a splice   disruption of RNA splicing   JP
 

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