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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 #8
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
939(-3) del tag splice   disruption of RNA splicing   26
 
939(-2) a-t splice   disruption of RNA splicing   JP
 
939(-1) g-a splice   disruption of RNA splicing   29
 
972 del AG L319fs   deletion, frame shift   5
 
978 C-T Q322X   nonsense   3 24 ,
30 ,
JP
 
989 C-G Y325X   nonsense   35
 
1000 del 8 L329fs   deletion, frame shift   35
 
1432 a-g   disruption of poly-A addition   JP
 

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