Table 1.

Mutations in the CD18 alleles of patients GF, HM and TB

		Nucleotide change †			cDNA		Genomic DNA
Patients	Mutations *	Normal	Variant	Enzyme site change	location ‡	# clones variant/total	exon location §	# clones variant/total
GF	A270V	C(GCG)	C(GTG)	BstUI lost	809	12/17	7	3/5
	C590R	(TGT)	(CGT)	none	1768	9/22	13	3/4
HM	A341P	GTCA(GCC)	GTCA(CCC)	Tsp45I created	1021	10/10	9	3/6
	C534*	C(TGC)G	C(TGA)G	DdeI created	1602	–	12	–
TB	R593C	(CGT)	(TGT)	none	1777	3/3	13	–

^*Mutations in the CD18 protein sequence. The initiation methionine is assigned number ‘1’.

^†Mutations in the cDNA sequence. For clarity, the DNA sequences and numbering are shown in italics. The altered bases are shown in bold and the codons involved are in brackets. Where restriction enzyme sites are affected, the sequences are shown and underlined.

^‡The location of the altered nucleotides in the cDNA sequence. The ‘A’ in the initiation codon ‘ATG’ is assigned number ‘1’.

^§Exon locations are assigned according to Weitzman et al. [20].