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. 2022 Jul 5;2022:2653089. doi: 10.1155/2022/2653089

Table 2.

Distribution of G6PD variants in this study.

Variant name Position Amino acid substitution Type of variant Exon Case Frequently (%) In silico analysis
Gaohe c.95A>G H32A Missense 2 24 7.08 Damaging score: 0.998
Orissa c.131C>G A44G Missense 3 3 0.88 Damaging score: 991
Quing Yan c.392G>T G131V Missense 5 12 3.54 Damaging score: 0.826
Valladolid c.406C>T L142C Missense 5 2 0.59 Damaging score: 1
NanKang c.517T>G F173L Missense 5 1 0.29 Damaging score: 1
Mediterranean c.563C>T S188P Missense 5 1 0.29 Benign score: 0.371
Coimbra Shunde c.592C>T R198C Missense 6 1 0.29 Damaging score: 1
Viangchan c.871G>A V291M Missense 9 83 24.48 Damaging score: 0.996
Chinese-5 c.1024C>T L342F Missense 9 14 4.13 Benign score: 0.205
Taiwan-2 c.1330 G > A V444I Missense 11 1 0.29 Benign score: 0.127
Union c.1360C>T R454C Missense 11 51 15.04 Damaging score: 1
Canton c.1376G>T R459L Missense 12 60 17.70 Damaging score: 0.910
Kaiping c.1388G>A R463H Missense 12 76 22.42 Damaging score: 0.860
Silent c.1311C>T T437T Silent 11 87 25.66 N/A
Valladolid/Silent c.406C>T A142C Missense 5, 11 2 0.59 N/A
c.1311C>T T437T /Silent
Viangchan/Silent c.871G>A V291M Missense 9, 12 69 20.35 N/A
c.1311C>T T437T /Silent
Union/Silent c.1360C>T R454C Missense 11 7 2.06 N/A
c.1311C>T T437T /Silent
Canton/Silent c.1376G>T R459L Missense 11, 12 2 0.59 N/A
c.1311C>T T437T /Silent
Kaiping/Silent c.1388G>T R463H Missense 11, 12 3 0.88 N/A
c.1311C>T T437T /Silent
Canton/Kaiping c.1376G>T c.1388G>A R459L, R463H Missense 12 1 0.29 N/A