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Fig. 4 | Molecular Medicine

Fig. 4

From: Molecular and Structural Characterization of Five Novel Mutations in the Bruton’s Tyrosine Kinase Gene from Patients with X-Linked Agammaglobulinemia

Fig. 4

Mutations in the Btk domains

Ribbons are running along the backbone of the domains. Left: the PH domain. Residues Y40, E41, and G50 are shown in yellow, cyan, and orange, respectively. The side chains of residues K12, S14 and R28, mutated in XLA and involved in phosphatidyl inositol (indicated in red) binding, are also highlighted in yellow. Right: the kinase domain. ATP and Mg2+ ions are shown in green and A508 is shown in yellow. Three other residues, C502, C506, and M509 in a helix-E, also mutated in XLA, are indicated in cyan. Modeling of the domains has been published previously (14, 18).

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Molecular Medicine

ISSN: 1528-3658