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Table 3 6-locus haplotype PHASE reconstructions

From: Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity

6-locus haplotype ID Amino acid residue Females (N)* Males (N)  
48 68 126 188 212 291
Locus 0 Exon 3 Locus 1 Exon 4 Locus 2 Exon 5 Locus 3 Exon 6 Locus 4 Exon 6 Locus 5 exon 9
1 T G A C A G 76 43 NORMAL
2 C G A C A G 45 49 AURES
3 T G A T A G 34 29 MEDITERANEAN
4 T G A C G G 0 2 SIBARI
5 T G A C A A 0 1 VIANGCHAN
6 T A G C A G 7 5 A-(1)
7 T A A C A G 6 5 A-(2)
8 T G G C A G 1 15 A-(3)
9 T A G T A G 0 1 JA
10 T A A T A G 2 2 JB
11 T G G T A G 0 2 JC
12 C A A C A G 1 7 JD
13 C G A T A G 0 1 JE
        172 163 TOTAL
  1. Footnote to Table 3. (a) Haplotypes identified by 6-locus haplotyping. Non-conservative mutated bases are shown in bold. Mutant loci are numbered from left to right and correspond to loci 0–5, as designated in Table 1. Totals represent haplotypes numbers, not patient numbers (except in males where these are identical). A-(1), A-(2) and A-(3) are variants of the A- phenotype [15]. (N)*=haplotype count.