Y40N (p.Tyr40Asn) variant of BTK (Tyrosine-protein kinase BTK)
Y40N (p.Tyr40Asn) 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.
Y40N (p.Tyr40Asn) variant details
- p.Tyr40Asn
- UniProt VAR 008295
- Pathogenic
- in XLA
- Missense
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.734
- Cited in: Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients… (PMID 9260159)
- Cited in: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. (PMID 10220140)