Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.

Abstract excerpt

The mechanisms that underlie the extensive phenotypic diversity in genetic disorders are poorly understood. Here, we develop a large-scale assay to characterize the functional valence (gain or loss-of-function) of missense variants identified in UBE3A, the gene whose loss-of-function causes the neurodevelopmental disorder Angelman syndrome. We identify numerous gain-of-function variants including a...

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• Angelman Syndrome
• Enzyme Assays
• Gain of Function Mutation
• Loss of Function Mutation
• Neurodevelopmental Disorders