Article
Structural basis for X-linked agammaglobulinemia (XLA): mutations at interacting Btk residues R562, W563, and A582.
Clinical immunology and immunopathology - 1 Sept 1995
Maniar H S, Vihinen M, Webster A D, Nilsson L, Smith C I
Abstract excerpt
It has been suggested that tryptophan 563 is sandwiched between residues R562 and A582 in Bruton's agammaglobulinemia tyrosine kinase (Btk). Mutations of the surrounding residues have been shown to cause X-linked agammaglobulinemia. Substitutions R562P and A582V were noticed to have impaired kinase activity. However, based on Western blot analysis, the mutant proteins were expressed at normal levels. Molecular...
Topics
- Agammaglobulinaemia Tyrosine Kinase
- Agammaglobulinemia
- Amino Acid Sequence
- Genetic Linkage
- Humans
- Models, Molecular
- Mutation
- Protein-Tyrosine Kinases
- X Chromosome