Nucleic Acids Research, Vol 26, Issue 1 242-247, Copyright © 1998 by Oxford University Press
M Vihinen, O Brandau, LJ Branden, SP Kwan, I Lappalainen, T Lester, JG Noordzij, HD Ochs, J Ollila, SM Pienaar, P Riikonen, BK Saha and CIE Smith
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by
mutations in the gene coding for Bruton's agammaglobulinemia tyrosine
kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and
the recent update lists 463 mutation entries from 406 unrelated families
showing 303 unique molecular events. In addition to mutations, the database
also lists variants or polymorphisms. Each patient is given a unique
patient identity number (PIN). Information is included regarding the
phenotype including symptoms. Mutations in all the five domains of BTK have
been noticed to cause the disease, the most common event being missense
mutations. The mutations appear almost uniformly throughout the molecule
and frequently affect CpG sites that code for arginine residues. The
putative structural implications of all the missense mutations are given in
the database. The improved version of the registry having a number of new
features is available at http://www.
helsinki.fi/science/signal/btkbase.html
ARTICLES
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Department of Biosciences, Division of Biochemistry, PO Box 56, FIN- 00014 University of Helsinki, Finland. mauno.vihinen@helsinki.fi
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