Variant: rs121908130 

    present in Gene: PSTPIP1
    present in Chromosome: 15
    Position on Chromosome: 77031225
    Alleles of this Variant: G/A

rs121908130 in PSTPIP1 gene and Pyogenic Arthritis, Pyoderma Gangrenosum and Acne PMID 14595024 2003 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.

PMID 11971877 2002 Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

PMID 22161697 2012 We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K.