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Literature summary for 2.7.10.2 extracted from

  • Lopez-Herrera, G.; Berron-Ruiz, L.; Mogica-Martinez, D.; Espinosa-Rosales, F.; Santos-Argumedo, L.
    Characterization of Brutons tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia (2007), Mol. Immunol., 45, 1094-1098.
    View publication on PubMed
Search for more literature for 2.7.10.2

Application

Application Comment Organism
medicine mutations in the gene encoding for Bruton's tyrosine kinase are responsible for most of the agammaglobulinemia Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
Btk, DNA and amino acid sequence determination of wild-type and mutant enzymes Homo sapiens
into the pCR2.1 vector for sequencing Homo sapiens

Protein Variants

Protein Variants Comment Organism
D639Y missense mutation in the SH1 domain, cG2078->T Homo sapiens
dN541-R544 deletion in the SH1 domain, cG1513-G1794 Homo sapiens
dW281-G325 deletion in the SH2 domain, cG1003-G1137 Homo sapiens
E605G missense mutation in the SH1 domain, cA1977->G Homo sapiens
FSdG299X321 deletion in the SH2 domain, cG1058-G1137 Homo sapiens
FSdN450X457 deletion in the SH1 domain, cG1513-G1729 Homo sapiens
FSiF583X597 insertion in the SH1 domain, 518 bp insertion between exon 17 and exon 18 Homo sapiens
FSiG299X312 insertion in the SH2 domain, 579 bp insertion between exon 10 and exon 11 Homo sapiens
IFiM450+27 insertion in the SH2 domain, 81 bp insertion between exon 14 and exon 15 Homo sapiens
L111P missense mutation in the PH domain, cT497->C Homo sapiens
L111P/R288W/R544S/R562W/S578P/E605G/D639Y/R641H mutations are due to deletions and insertions of exons and introns, respectively, which suggest splicing defects, leading to development of the X-linked agammaglobulinemia, XLA, a humoral primary immunodeficiency, in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes, overview Homo sapiens
R288W missense mutation in the SH2 domain, cC1026->T Homo sapiens
R544S missense mutation in the SH1 domain, cG1796->C Homo sapiens
R562W missense mutation in the SH1 domain, cC1847->T Homo sapiens
R641H missense mutation in the SH1 domain, cG2085->A Homo sapiens
S578P missense mutation in the SH1 domain, cT1895->C Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + [protein]-L-tyrosine Homo sapiens
-
 ADP + [protein]-L-tyrosine phosphate
-
 ?
additional information Homo sapiens enzyme deficiency leads to X-linked agammaglobulinemia, XLA, a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes, overview ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 Mexican patients with X-linked agammaglobulinemia
-
Homo sapiens Q06187 reference sequence for mutated Btk genes
-

Source Tissue

Source Tissue Comment Organism Textmining
B-cell lymphoma cell
-
 Homo sapiens
-
peripheral blood mononuclear cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + [protein]-L-tyrosine
-
 Homo sapiens ADP + [protein]-L-tyrosine phosphate
-
 ?
additional information enzyme deficiency leads to X-linked agammaglobulinemia, XLA, a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes, overview Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
Bruton's tyrosine kinase
-
 Homo sapiens
Brutons tyrosine kinase
-
 Homo sapiens
Btk
-
 Homo sapiens