Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
FEBS Lett
; 413(2): 205-10, 1997 Aug 18.
Article
em En
| MEDLINE
| ID: mdl-9280283
ABSTRACT
Tec family protein tyrosine kinases have in their N-terminus two domains. The PH domain is followed by Tec homology (TH) domain, which consists of two motifs. The first pattern, Btk motif, is also present in some Ras GAP molecules. C-terminal half of the TH domain, a proline-rich region, has been shown to bind to SH3 domains. Mutations in Bruton's tyrosine kinase (Btk) belonging to the Tec family cause X-linked agammaglobulinemia (XLA) due to developmental arrest of B cells. Here we present the first missense mutations in the TH domain. The substitutions affect a conserved pair of cysteines, residues 154 and 155, involved in Zn2+ binding and thereby the mutations alter protein folding and stability.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Tirosina Quinases
/
Homologia de Sequência de Aminoácidos
/
Mutação Puntual
/
Cisteína
/
Agamaglobulinemia
Limite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
FEBS Lett
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Finlândia