K27R (p.Lys27Arg) variant of BTK (Tyrosine-protein kinase BTK)
K27R (p.Lys27Arg) 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.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- UniProt VAR 008292
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.96
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)
- Cited in: Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. (PMID 10612838)