FEBS Lett 2001 Jun 01;4981:104-9. doi: 10.1016/s0014-5793(01)02463-2.

Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.

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The first autosomal dominant missense mutation (G272A) reported within the human GLUT1 gene and shared by three affected family members was investigated in respect to functional consequences. Substitution of glycine-91 by site-directed mutagenesis with either aspartate or alanine resulted in a significant decrease in transport activity of GLUT1 expressed in Xenopus oocytes. Expression of mutant transporters was confirmed by immunoblot, 2-deoxy-glucose uptake and confocal laser microscopy. The data agree with 3-O-methyl-glucose uptake into patient erythrocytes and indicate that the loss of glycine rather than a hydrophilic side chain (Gly91Asp) defines the functional consequences of this mutation.

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Species referenced: Xenopus laevis
Genes referenced: slc2a1