Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.
We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein surface (G6PD Figueira da Foz).
Manco
Licínio
L
Gonçalves
Paula
P
Macedo-Ribeiro
Sandra
S
Seabra
Carlos
C
Melo
Paula
P
Ribeiro
Maria Letícia
ML
D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics*; D005091:Exons; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
D005954:Glucosephosphate Dehydrogenase