The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

Abstract excerpt

<h4>ABSTRACT</h4> A gain-of-function missense variant in the CELA3B gene, p.Arg90Cys (c.268C>T), has recently been reported to cause pancreatitis in an extended pedigree. Herein, we sequenced the CELA3B gene in 644 genetically unexplained French chronic pancreatitis (CP) patients (all unrelated) and 566 controls. No predicted loss-of-function variants were identified. None of the six low frequency or common missen...

Topics

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• Chymotrypsin
• Genetic Predisposition to Disease
• HEK293 Cells
• Lipase
• Mutation
• Mutation, Missense
• Pancreatic Elastase
• Pancreatitis, Chronic

Identifiers and source

Literature Corpus work

57efe9f0-bd1a-582d-b9d6-9002c6c74de3

DOI

10.1101/2020.11.28.20240135