R28P (p.Arg28Pro) variant of BTK (Tyrosine-protein kinase BTK)
R28P (p.Arg28Pro) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The record also includes experimental measurements, published literature, and structural context.
R28P (p.Arg28Pro) variant details
- p.Arg28Pro
- UniProt VAR 006221
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0678
- Cited in: Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35… (PMID 8695804)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)