A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

Article Details

Citation

Galanello R, Loi D, Sollaino C, Dessi S, Cao A, Melis MA

A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.

Hum Mutat. 1998;12(1):72-3.

PubMed ID
10627140 [ View in PubMed
]
Abstract

In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Glucose-6-phosphate 1-dehydrogenaseP11413Details