K19E (p.Lys19Glu) variant of BTK (Tyrosine-protein kinase BTK)
K19E (p.Lys19Glu) 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.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- UniProt VAR 008291
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.66
- Cited in: Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without… (PMID 9445504)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)