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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.
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BMC Pediatrics

ISSN: 1471-2431

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