Skip Navigation National Human Genome Research Institute National Human Genome Research Institute National Human Genome Research Institute National Institutes of Health
   
Home | About NHGRI | Newsroom | Staff Directory
Research Grants Health Policy & Ethics Educational Resources Careers & Training

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 #7
 
cDNA number Mutation Amino Acid Change Mutation Type Occur Reference or investigator
879 C-T R289X   nonsense   16 2 ,
7 ,
11 ,
17 ,
24 ,
31 ,
36 ,
JP
 
885 del C P291fs   deletion, frame shift   38
 
892 T-A L293Q   missense   13
 
916 del C T301fs   deletion, frame shift   26
 
922 ins TA Y303fs   insertion, frame shift   24
 
923 C-A Y303X   nonsense   10
 
924 del C H304fs   deletion, frame shift   24
 
930 ins G N306fs   insertion, frame shift   33
 
937 C-A S308X   nonsense   3 2 ,
23 ,
JP
 
938 G-C splice   disruption of RNA splicing   3 35 ,
JP
 
938(+1) g-t splice   disruption of RNA splicing   2 24 ,
JP
 
938(+1) g-a splice   disruption of RNA splicing   2 24 ,
JP
 
938(+2) t-g splice   disruption of RNA splicing   35
 
938(+5) g-c splice   disruption of RNA splicing   24
 

Comments, suggestions and problems to bioinformatics@nhgri.nih.gov


Genome.gov privacy policyPrivacy Genome.gov contact informationContact Genome.gov accessibilit informationAccessibility Genome.gov site indexSite Index Genome.gov staff directoryStaff Directory Genomve.gov home pageHome Government Links Department of Health and Human Services FirstGov National Institutes of Health