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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 #5
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
609(-1) g-c splice   disruption of RNA splicing   35
 
616 C-G S201X   nonsense   35
 
617 ins 4 V202fs   insertion, frame shift   2 33 ,
JP
 
660 C-T Q216X   nonsense   2 24 ,
JP
 
671 C-A or C-G Y219X   nonsense   39
 
678 C-T R222C   missense   6 7 ,
25 ,
30 ,
34 ,
JP
 
679 del G R222fs   deletion, frame shift   3 7 ,
9 ,
37
 
684 C-T R224W   missense   14 22 ,
24 ,
27 ,
30 ,
32 ,
JP
 
685 del 6 R224 del SR   deletion, in frame   7
 
689 C-G S225R   missense   JP
 
690 C-T R226C   missense   15 3 ,
8 ,
11 ,
19 ,
24 ,
26 ,
30 ,
36 ,
43 ,
JP
 
691 G-A R226H   missense   14 11 ,
24 ,
33 ,
36 ,
JP
 
694 T-G F227C   missense   24
 
703 T-C L230P   missense   24
 
704 del 7 L230fs   deletion, frame shift   38
 
705 T-C C231R   missense   JP
 
706 G-A C231Y   missense   35
 
707 del TG C231fs   deletion, frame shift   24
 
708 G-A G232R   missense   24
 
709 del G G232fs   deletion, frame shift   26
 
709 G-T G232V   missense   JP
 
711 del A S233fs   deletion, frame shift   6
 
717 C-T Q235X   nonsense   6 7 ,
10 ,
24 ,
JP
 
723 T-C W237R   missense   2 35 ,
38
 
725 ins 9 QHW 237-238 ins   insertinion, in frame   12
 
732 T-C W240R   missense   JP
 
733 G-A W240X   nonsense   JP
 
734 G-C W240C   missense   3
 
736 G-T S241I   missense   2 3 ,
24
 
736 del G S241fs   deletion, frame shift   30
 
738 ins A H242fs   insertion, frame shift   30
 
742 del 8 P243fs   deletion, frame shift   JP
 
744 ins A I244fs   insertion, frame shift   JP
 
750 ins T W246fs   insertion, frame shift   JP
 
751 G-A W246X   nonsense   JP
 
752 G-A W246X   nonsense   35
 
771(+1) g-t splice   disruption of RNA splicing   33
 

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