Table 1.
G6PD enzyme activity in the samples with G6PD Orissa, G6PD Mahidol, and G6PD Kalyan-Kerala variants
| Mutations | Exons | Amino acid substitution | Enzyme activity U/g Hb | Enzyme activity compared to the cut-off (%) |
|---|---|---|---|---|
| c.C131G* | Exon 3 | p. Ala44Gly | 3.10 | 57.93% ↓ |
| c.C131G# | Exon 3 | p. Ala44Gly | 4.89 | 33.60% ↓ |
| c.G487A# | Exon 6 | p. Gly163Ser | 7.67 | 03.91% ↑ |
| c.G487A# | Exon 6 | p. Gly163Ser | 11.34 | 35.04% ↑ |
| c.G949A# | Exon 9 | p. Glu317Lys | 5.45 | 26.03% ↓ |
| c.G949A# | Exon 9 | p. Glu317Lys | 9.38 | 21.45% ↑ |
| c.G949A# | Exon 9 | p. Glu317Lys | 10.84 | 33.99% ↑ |
# indicates heterozygous variants; *indicates homozygous variants; ↓ indicates lower; ↑ indicates higher