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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 #2
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
140 del G L42fs   deletion, frame shift   24
 
143 del C T43fs   deletion, frame shift   JP
 
179 A-G L55L   polymorphism   26
 
198 T-G C62G   missense   15
 
198 del 22 C62fs   deletion, frame shift   27
 
200 T-A C62X   nonsense   2 1 ,
JP
 
204 G-A V64M   missense   38
 
211 A-T N66I   missense   19
 
211 del tg ins 39 N66fs   complex mutation, frame shift   37
 
216 G-A E68K   missense   5 6 ,
24 ,
33 ,
36
 
217 A-G E68G   missense   GSB
 
234 T-G W74G   missense   27
 
236 G-C W74C   missense   35
 
255 C-T Q81X   nonsense   2 6 ,
35
 
266 C-G N84K   missense   26
 
269 del 7 L85fs   deletion, frame shift   35
 
270 del 7 T86fs   deletion, frame shift   8
 
270 A-C T86P   missense   JP
 
280 A-G Y89C   missense   24
 
283 G-A W90X   nonsense, possible disruption of RNA splcing   JP
 
283(+1) del g splice   disruption of RNA splicing   35
 
283(+1) g-a splice   disruption of RNA splicing   24
 
283(+2) t-c splice   disruption of RNA splicing   33
 

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