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. 2019 Oct 29;5(4):38. doi: 10.3390/ijns5040038

Table 3.

Classification and genotypes of newborn infants with activity ≤40% of the days mean.

Pat Class G6PD-Activity 1 Nucleotide Change Predicted Effect on Protein
01 II 2% c.[1360C>T];[0] p.[(Arg454Cys)];[0] 6
02 II 4% c.[563C>T];[0] p.[(Ser188Phe)];[0]
03 II 4% c.[563C>T];[0] p.[(Ser188Phe)];[0]
04 II 4% c.[563C>T];[0] p.[(Ser188Phe)];[0]
05 II 5% c.[563C>T];[0] p.[(Ser188Phe)];[0] 3
06 II 5% c.[563C>T];[0] p.[(Ser188Phe)];[0]
07 II 6% c.[563C>T];[0] p.[(Ser188Phe)];[0]
08 II 6% c.[563C>T];[0] p.[(Ser188Phe)];[0] 3
09 II 7% c.[563C>T];[0] p.[(Ser188Phe)];[0] 3,6
10 II 7% c.[563C>T];[0] p.[(Ser188Phe)];[0]
11 II 7% c.[563C>T];[563C>T] p.[(Ser188Phe)];[(Ser188Phe)] 2
12 II 8% c.[563C>T];[0] p.[(Ser188Phe)];[0]
13 II 8% c.[267+5G>T];[563C>T] p.[?];[(Ser188Phe)] 2,4,7
14 II 9% N.D p.[=];[0]
15 II 10% c.[563C>T];[0] p.[(Ser188Phe)];[0]
16 II 10% c.[563C>T];[0] p.[(Ser188Phe)];[0]
17 III 14% c.[95A>G];[0] p.[(His32Arg)];[0]6
18 III 14% c.[871G>A];[0] p.[(Val291Met)];[0]
19 III 18% c.[406C>T;1048G>C];[0] p.[(Arg136Cys;Asp350His)];[0]
20 III 20% c.[376A>G;524A>T;968T>C];[376A>G] p.[(Asn126Asp;Asp181Val;Leu323Pro)];[(Asn126Asp)] 2,5
21 III 22% c.[871G>A];[0] p.[(Val291Met)];[0]
22 III 22% c.[202G>A;376A>G];[0] p.[(Val68Met;Asn126Asp)];[0] 3
23 III 23% c.[202G>A;376A>G];[0] p.[(Val68Met;Asn126Asp)];[0] 3
24 III 24% N.D p.[=];[0] 3,6
25 III 25% c.[376A>G;968T>C];[0] p.[(Asn126Asp;Leu323Pro)];[0] 3
26 III 25% c.[202G>A;376A>G];[202G>A;376A>G] p.[(Val68Met;Asn126Asp)];[(Val68Met;Asn126Asp)] 2,5
27 III 36% c.[202G>A;376A>G];[202G>A;376A>G] p.[(Val68Met;Asn126Asp)];[(Val68Met;Asn126Asp)] 2,5
28 III 37% c.[563C>T];[=] p.[(Ser188Phe)];[=] 2
29 III 39% N.D p.[=];[0] 3,6

1 Mean activity of 3 determinations, 2 Girl, 3 Hemizygous for c.1311T>C, 4 Heterozygous for c.1311T>C, 5 Homozygous for c.1311T>C, 6 Hemizygous for c.1365-13C>T, 7 Heterozygous for c.1365-13C>T, Not detected, N.D.