Table 3.
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.