Table 4 Missense mutations obtained from DNA sequencing results
cDNA change | Protein change | Case No | Genotype | Sex | G6PD activity (U/L) | Reported |
|---|---|---|---|---|---|---|
c.1438A>T | p.Ile480Phe | 1 | Hemizygote | Male | 943 | This study |
c.946G>A | p.Gly316Ser | 2 | Hemizygote | Male | 1047 | This study |
c.551C>T | p.Ser184Phe | 3 | Homozygote | Female | 20 | India |
c.703C>T | p.Leu235Phe | 4 | Homozygote | Female | 1043 | Guangxi China |
5 | Hemizygote | Male | 1195 | |||
c.187G>A | p.Glu63Lys | 6 | Hemizygote | Male | 1260 | Taiwan China |
c.517T>C | p.Phe173Leu | 7 | Heterozygote | Female | 887 | China, Malaysia |
8 | Heterozygote | Female | 519 | |||
9 | Heterozygote | Female | 920 | |||
10 | Hemizygote | Male | 222 | |||
11 | Hemizygote | Male | 255 | |||
12 | Hemizygote | Male | 334 |