Important notice for the users!

 

IDbases have been moved to Lund University and are available at

http://structure.bmc.lu.se/idbase/

They will remain for a while in this old address and will be removed in the future.

 

 

 

- databases for immunodeficiency-causing mutations

   CYBBbase
   Mutation registry for  X-linked chronic granulomatous disease (XCGD)


CYBBbase mutation types

CYBBbase mutation types

The number of analyzed patients
Missense339
Nonsense403
Deletion inframe21
Deletion frameshift163
Deletion undefined136
Insertion inframe6
Insertion frameshift84
Insertion undefined5
Splice site inframe1
Splice site frameshift4
Splice site undefined194
Multiple5
Upstream16
Unclassified10
Total1387
  
The number of unrelated patients
Missense290
Nonsense376
Deletion inframe18
Deletion frameshift151
Deletion undefined128
Insertion inframe6
Insertion frameshift77
Insertion undefined5
Splice site inframe1
Splice site frameshift3
Splice site undefined176
Multiple4
Upstream8
Unclassified10
Total1253

This site is updated by Jouni Väliaho
© IBT Bioinformatics 1998-2013
Last modified 16.06.2011