Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein

Abstract excerpt

Pathogenic missense mutations are commonly found in protein-coding regions of DNA, and often alter protein function. In the past decade, enormous experimental efforts have been undertaken through the development of functional assays, mutagenesis screenings, and computational prediction algorithms to characterize these variants. Indeed, most efforts have been focused towards identifying degrees of loss-of-function...

Topics

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• Anemia, Hemolytic, Congenital
• Bayes Theorem
• Genetic Association Studies
• Genetic Variation
• Hydrops Fetalis
• Ion Channels
• Iron Overload
• Phenotype

Identifiers and source

Literature Corpus work

cc9851d4-f202-5692-8e47-7c700627aaba

DOI

10.1101/2025.07.03.662957