rs128621190
|
|
|
0.810 |
GeneticVariation |
BEFREE |
In this paper, we report that the PH domain of Btk functions as an inositol 1,3,4,5-tetrakisphosphate (IP4), inositol 1,3,4,5,6-pentakisphosphate, and inositol 1,2,3,4,5,6-hexakisphosphate (IP6) binding domain (Kd of approximately 40 nM for IP4), and that all of the XLA (Phe replaced by Ser at position 25 (F25S), R28H, T33P, V64F, and V113D) and Xid mutations (R28C) found in the PH domain result in a dramatic reduction of IP4 binding activity.
|
8939985 |
1996 |
rs128621190
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).
|
7633420 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
|
7849721 |
1994 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
|
10678660 |
2000 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.
|
7849006 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
|
8834236 |
1996 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in btk in patients with presumed X-linked agammaglobulinemia.
|
9545398 |
1998 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
|
10220140 |
1999 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
|
8723128 |
1996 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
|
7849697 |
1994 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
|
7897635 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.
|
10612838 |
2000 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
|
7711734 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.
|
9260159 |
1997 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
|
7627183 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
|
8594569 |
1996 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.
|
8695804 |
1996 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
|
9280283 |
1997 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
|
7633429 |
1995 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
|
9016530 |
1997 |
rs128621190
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
|
8013627 |
1994 |