|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.
|
26025129 |
2015 |
|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
One case of a novel E250K mutation has been reported, which presented with a different phenotype to previously described cases of PAPA syndrome.
|
25845478 |
2015 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The reported cases of PAP</span>A syndrome currently in the literature involve mutations in A230T and E250Q.
|
25845478 |
2015 |
|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab.
|
22513199 |
2012 |
|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K.
|
22161697 |
2012 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K.
|
22161697 |
2012 |
|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Impaired podosome formation and invasive migration of macrophages from patients with a PSTPIP1 mutation and PAPA syndrome.
|
20506269 |
2010 |
|
rs28939089
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Differing degrees of joint destruction, and cervical ankylosis in this family with the E250Q mutation demonstrate PAPA syndrome's variable expression.
|
16527883 |
2006 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Differing degrees of joint destruction, and cervical ankylosis in this family with the E250Q mutation demonstrate PAPA syndrome's variable expression.
|
16527883 |
2006 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
PAPA-associated A230T and E250Q PSTPIP1/CD2BP1 mutations markedly increased pyrin binding as assayed by immunoprecipitation and, relative to WT, these mutants were hyperphosphorylated when coexpressed with c-Abl kinase.
|
14595024 |
2003 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
BEFREE |
PAPA-associated A230T and E250Q PSTPIP1/CD2BP1 mutations markedly increased pyrin binding as assayed by immunoprecipitation and, relative to WT, these mutants were hyperphosphorylated when coexpressed with c-Abl kinase.
|
14595024 |
2003 |
|
rs28939089
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
|
11971877 |
2002 |
|
rs28939089
|
|
C |
0.830 |
CausalMutation |
CLINVAR |
|
|
|