Molecular and Structural Characterization of Five Novel Mutations in the Bruton’s Tyrosine Kinase Gene from Patients with X-Linked Agammaglobulinemia

Table 1 Mutations in the Btk gene of XLA patients

Patient	Nucleotide Change^a	Amino Acid Change	Exon/Intron/Domain	RFLP^b
P20	T250A	Y40N	Exon 2/PH domain	None
P14	A251G	Y40C	Exon 2/PH domain	None
P3	del G451	Frameshift	Exon 5/PH domain	None
P21	C1655A	A508D	Exon 15/kinase domain	NcoI (−), BbsI ( + )
Pli, P12	G2040 ( + 1)T	Skip exon 18	Intron 18/kinase domain	MnlI (−), MseI ( + )

^aThe nucleotide sequence designation is from Vetrie et al. (5).
^b(−) indicates loss and ( + ) indicates gain of the indicated restriction site due to the nucleotide change.

ISSN: 1528-3658