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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 #4
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
469(-7) del 12 splice   disruption of RNA splicing   35
 
469(-2) a-g splice   disruption of RNA splicing   24
 
469(-1) g-a splice   disruption of RNA splicing   24
 
469 T-C V152A   missense   16
 
469 T-A V152E   missense   JP
 
472 T-A I153N   missense   2 1 ,
38
 
477 ins A W155x   insertion, frame shift   JP
 
478 G-A W155X   nonsense   JP
 
479 G-A W155X   nonsense   JP
 
480 del G A156fs   deletion, frame shift   35
 
481 C-T A156V   missense   5
 
483 C-T P157S   missense   2 35 ,
38
 
484 C-T P157L   missense   JP
 
498 T-G L162R   missense   27
 
499 T-G L162R   missense   34
 
499 T-A L162H   missense   24
 
529 T-C L172P   missense   24
 
529 T-A L172Q   missense   24
 
534 del 6 WN 174-5 del   deletion, in frame   24
 
535 G-A W174X   nonsense   35
 
536 G-A W174X   nonsense   35
 
542 del CA N176fs   deletion, frame shift   24
 
550-551 TG-AA L179X   complex mutation, frame shift   26
 
550-552 TGA-AGC L179X   complex mutation, frame shift   24
 
558 T-C C182R   missense   35
 
562 T-C L183S   missense   3 7 ,
27 ,
40
 
564 G-T E184X   nonsense   JP
 
568 A-G H185R   missense   33
 
576 C-T Q188X   nonsense   3 24 ,
26 ,
41
 
581 C-A Y189N   nonsense   24
 
582 ins A R190fs   insertion, frame shift   38
 
582 del 15 R190 del 5 AA   deletion, in frame   33
 
593 G-A W193X   nonsense   2 24
 
605 del 20 ins A W197fs   complex mutation, frame shift   19
 
608(+1) g-a T198fs   splice   2 7
 
608(+3) g-t splice   splice   35
 
608(+3) g-c L198fs   splice   2 27 ,
LN
 
608(+5) g-a splice   splice   24 ,
JP
 

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