From: Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity
Locus* | Exon /intron number | Nucleotide number** | Nucleotide mutation | Amino acid number and substitution | Designation | Frequency | ||
---|---|---|---|---|---|---|---|---|
F (N) | M (N) | |||||||
Hom. | Het. | Hemi. | ||||||
0 | Exon 3 | 153417565 | T>C | p.Ile48Thr | AURES | 13 | 20 | 58 |
 |  |  |  |  |  | (86) | (86) | (163) |
1 | Exon 4 | 153417411 | G>A | p.Val68Met | A- | 4 | 8 | 20 |
 |  |  |  |  |  | (86) | (86) | (163) |
2 | Exon 5 | 153416686 | A>G | p.Asn126Asp | A- | 0 | 8 | 23 |
 |  |  |  |  |  | (86) | (86) | (163) |
3 | Exon 6 | 153415828 | C>T | p.Ser188Phe | MEDITERANEAN | 9 | 20 | 36 |
 |  |  |  |  |  | (86) | (86) | (163) |
4 | Exon 6 | 153415757 | A>G | p.Met212Val | SIBARI | 0 | 0 | 2 |
 |  |  |  |  |  | (86) | (86) | (163) |
5 | Exon 9 | 153414531 | G>A | p.Val291Met | VIANGCHAN | 0 | 0 | 1 |
 |  |  |  |  |  | (86) | (86) | (163) |
6 | Exon 9 | 153414434 | T>C | p.Leu323Pro | A- | 0 | 1 | 0 |
 |  |  |  |  |  | (86) | (86) | (163) |
7 | Exon 11 | 153413848 | C>T | p.Tyr437Tyr | - | 14 | 18 | 51 |
 |  |  |  |  |  | (61) | (61) | (102) |
8 | Intron | 153413702 | T>C | - | - | 32 | 18 | 77 |
 | 11 |  |  |  |  | (61) | (61) | (102) |
9 | Exon 12 | 153413666 | G>A | p.Arg463His | ANANT | 1 | 0 | 3 |
 |  |  |  |  |  | (61) | (61) | (102) |
10 | Exon 12 | 153413623 | C>T | p.Pro477Pro | - | 0 | 1 | 1 |
 |  |  |  |  |  | (61) | (61) | (102) |
11 | Intron | 153413340 | -/GGA | - | - | 0 | 2 | 1 |
 | 13 |  |  |  |  | (61) | (61) | (102) |
12 | Intron | 153413052 | A>G | - | - | 1 | 3 | 1 |
 | 13 |  |  |  |  | (61) | (61) | (102) |