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Table 2 G6PD genotypes and markers identified in this study

From: Genotypic and phenotypic characterization of G6PD deficiency in Bengali adults with severe and uncomplicated malaria

Mutation

Variant

Location

Ancestral allele

Derived allele

Amino acid effect

Enzyme activity

c.131C>G

Orissa

Exon 3

C

G

A44G

~10% normal activity [37]

c.487G>A

Mahidol

Exon 6

G

A

G163S

<10% normal activity [38]

c.949G>A

Kerala-Kalyan

Exon 9

G

A

E317K

~20% normal activity [37]

c.690C>T

Unknown

Exon 7

C

T

I230I

Normal

c.1311C>T

–

Exon11

C

T

Y437Y

Normal

IVSXI 93C>T

–

Intron 11

C

T

Non-coding

Presumed normal

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Malaria Journal

ISSN: 1475-2875

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