Skip to main content

Table 3 BTK mutation analysis in 4 XLA patients

From: Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia

Patient Exon/Intron Mutation Protein domain Protein alteration Mother status
1 Exon 18 c.1770delG SH1 p.Gly594fsX54 N.D.
2 Exon 14 c.1249A > T* SH2 p.Lys417X N.D.
Exon 18 c.1899C > T** SH1
3 Exon 17 c.1742delG* SH1 p.Ala582LeufsX4 Carrier
4 Exon 6 c.441G > A TH p.Trp147X N.D.
  1. *Novel mutation; **silent polymorphism; N.D., not done; SH1, catalytic kinase domains; SH2, Src homology 2 domain; TH, Tec homology domain.