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Article

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.

Cell reports - 14 Mar 2017

Cunningham Anna D, Colavin Alexandre, Huang Kerwyn Casey, Mochly-Rosen Daria

Abstract excerpt

G6PD deficiency, an enzymopathy affecting 7% of the world population, is caused by over 160 identified amino acid variants in glucose-6-phosphate dehydrogenase (G6PD). The clinical presentation of G6PD deficiency is diverse, likely due to the broad distribution of variants across the protein and the potential for multidimensional biochemical effects. In this study, we use bioinformatic and biochemical analyses to...

Topics

Amino Acid Substitution
Biocatalysis
Databases, Protein
Glucosephosphate Dehydrogenase
Humans
Models, Molecular
Mutation
Principal Component Analysis
Protein Stability

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28297664
DOI: 10.1016/j.celrep.2017.02.048
PMCID: PMC5396575

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