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Table 3 Enzyme activity assay results for the carriers of the seven novel variants identified in the Qatari population

From: Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

Variant position Amnio acid change Sample ID Subject gender Subject zygosity status RBC count (× 106/ul) G6PDH (mU/mL) G6PDH (mU/109 RBC) Interpretation*
153775079 p.Arg3Trp QU000105000014 M Hemizygous 6 1010 168 Deficient
   QU000105000006 F Heterozygous 4.4 997 227 Normal
   QU000105000007 F Heterozygous 5 1013 203 Deficient
153760614 p.His451Tyr QU000105000011 F Heterozygous 4.5 602 134 Deficient
   QU000105000010 F Heterozygous 5.8 878 151 Deficient
153764192 p.Thr76Lys QU000105000003 F Heterozygous 4.4 700 159 Deficient
153760419 p.Pro481Ala QU000105000001 F Heterozygous 5.6 1075 192 Deficient
153761006 p.Ile355Val QU000105000013 M Hemizygous 4.2 733 175 Deficient
   QU000105000012 F Heterozygous 4 1004 251 Normal
   QU000105000009 F Heterozygous 4.2 725 173 Deficient
   QU000105000004 F Heterozygous 4 526 132 Deficient
153763512 p.Gln119Pro QU000105000002 F Heterozygous 4.2 341 81 Deficient
153763556 P.Arg104Arg QU000105000005 F Heterozygous 5.3 668 126 Deficient
   QU000105000008 F Heterozygous 3.9 678 174 Deficient
  1. M: male, F: female
  2. *G6PDH of 244 mU/10 9 RBC or below is interpreted as deficient
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Human Genomics

ISSN: 1479-7364