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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 #3
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
284(-15) a-g W90fs   disruption of RNA splicing   6 14 ,
24 ,
33 ,
JP
 
286 A-G Y91C   missense   33
 
287 del CA Y91fs   deletion, frame shift   35
 
287 C-A Y91X   nonsense   35
 
306 A-T K98X   nonsense   33
 
306 A-G K98E   missense   35
 
319 G-A C102Y   missense   26
 
326 del C H104fs   deletion, frame shift   35
 
328 A-G Y105C   missense   2 30 ,
GSB
 
329 T-A Y105X   nonsense   19
 
336 T-A S108T   missense   38
 
336 T-C S108P   missense   2 33 ,
37
 
342 del G E110fs   deletion, frame shift   35
 
342 G-T E110X   nonsense   2 35 ,
JP
 
351 del T S113fs   deletion, frame shift   JP
 
355 G-A G114D   missense   3 1 ,
19 ,
JP
 
355 del G G114fs   deletion, frame shift   27
 
357 C-T C115R   missense   18
 
358 G-A C115Y   missense   3
 
359 del 4 C115fs   deletion, frame shift   2 37 ,
38
 
359 T-A C115X   nonsense   36
 
360 C-T Q116X   nonsense   24
 
366 C-T Q118X   nonsense   JP
 
369 A-T K119X   nonsense   3 2 ,
24 ,
JP
 
373 ins T K120fs   insertion, frame shift   3 35
 
373 ins A K120fs   insertion, frame shift   3 24 ,
JP
 
374 del17 ins18 K120fs   complex mutation, frame shift   35
 
375 del G E121fs   deletion, frame shift   35
 
382 A-C H123P   missense   24
 
386 del C L124fs   deletion, frame shift   JP
 
387 T-A Y125N   missense   24
 
388 A-G Y125C   missense   JP
 
391 del A Q126fs   deletion, frame shift   33
 
398,406 del T, AGCT F128fs   complex mutation, frame shift   2 24 ,
JP
 
405 C-T Q131X   nonsense   2 24 ,
JP
 
406 A-C Q131P   missense   35
 
408 C-T L132F   missense   2 27 ,
38
 
411 C-T Q133X   nonsense   26 ,
JP
 
434 del A; ins CT R140fs   complex mutation, frame shift   35
 
435 C-T Q141X   nonsense   2 24
 
444 C-T Q144X   nonsense   3 6 ,
24 ,
33
 
445 A-C Q141P   missense   24
 
447 del A M145fs   deletion, frame shift   24
 
451 T-C L146P   missense   35
 
468(+1) g-a splice   disruption of RNA splicing   2 1 ,
JP ,
42
 
468(+3) a-c splice   disruption of RNA splicing   42
 

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