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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 #6
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
772(-1) g-c splice   disruption of RNA splicing   35
 
776 del T N254fs   deletion, frame shift   JP
 
807 del 23 V263fs   deletion, frame shift   JP
 
823 T-G M270R   missense   24
 
826 G-A G271E   missense   35
 
829 del T L272fs   deletion, frame shift   35
 
830 del 4 L272fs   deletion, frame shift   4 16 ,
21 ,
30 ,
JP
 
833 del T I273fs   deletion, frame shift   24
 
835 ins AT I274fs   insertion, frame shift   24
 
838 ins G S275fs   insertion, frame shift   33
 
848/868 T-G/G-A C278W/splice   missense and disruption of RNA splicing   26
 
851 del GT V279fs   deletion, frame shift   7 ,
24
 
868 G-A R285   disruption of RNA splicing   14 20 ,
24 ,
28 ,
30 ,
33 ,
39 ,
JP
 
868 G-T R285   disruption of RNA splicing   2 30 ,
JP
 
868(+1) g-t splice   disruption of RNA splicing   24
 
868(+2) t-c splice   disruption of RNA splicing   35
 
868(+2) del tg splice   disruption of RNA splicing   24
 
868(+5) g-c splice   disruption of RNA splicing   24
 
868(+5) del ga splice   disruption of RNA splicing   JP
 

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