Table 3 Enzyme activity assay results for the carriers of the seven novel 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 |