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Table 2 Mutations and polymorphisms identified in patients

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)
  1. Footnote to Table 2: *, locus designation used throughout this communication and for the linkage disequilibrium analysis locus codes. ** Nucleotide numbers are from G6PD reference sequence (UCSC Genome Browser, February 2006 build).