Application | Comment | Organism |
---|---|---|
medicine | mutations in the gene encoding for Bruton's tyrosine kinase are responsible for most of the agammaglobulinemia | Homo sapiens |
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 | 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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Mexican patients with X-linked agammaglobulinemia | - |
Homo sapiens | Q06187 | reference sequence for mutated Btk genes | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
B-cell lymphoma cell | - |
Homo sapiens | - |
peripheral blood mononuclear cell | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
Bruton's tyrosine kinase | - |
Homo sapiens |
Brutons tyrosine kinase | - |
Homo sapiens |
Btk | - |
Homo sapiens |