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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).