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BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

M Vihinen¹, O Brandau, L J Brandén

¹Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014 University of Helsinki, Finland. mauno.vihinen@helsinki.fi

Nucleic Acids Research

|February 21, 1998

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X-linked agammaglobulinemia (XLA) is an immunodeficiency linked to Bruton's agammaglobulinemia tyrosine kinase (BTK) gene mutations. BTKbase now catalogs 463 mutations from 406 families, detailing phenotypes and structural impacts.

Area of Science:

Immunology
Genetics
Biochemistry

Background:

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder.
It results from mutations in the Bruton's agammaglobulinemia tyrosine kinase (BTK) gene.
Understanding BTK mutations is crucial for diagnosing and potentially treating XLA.

Purpose of the Study:

To update and enhance the BTKbase database with new mutation entries and features.
To provide a comprehensive resource for researchers studying BTK mutations and XLA.
To catalog disease phenotypes associated with specific BTK mutations.

Main Methods:

Compilation and curation of mutation data from scientific literature and clinical reports.
Inclusion of genetic variants, polymorphisms, and associated patient phenotypes.

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Analysis of mutation distribution across BTK domains and identification of common mutation types (e.g., missense).

Main Results:

The updated BTKbase contains 463 mutation entries from 406 families, representing 303 unique molecular events.
Mutations affect all five domains of BTK, with missense mutations being the most common.
The database includes information on patient phenotypes and putative structural implications of missense mutations.

Conclusions:

BTKbase serves as a valuable, updated resource for XLA research.
The comprehensive data aids in understanding the genotype-phenotype correlations in XLA.
The database facilitates further investigation into the structural and functional consequences of BTK mutations.