Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

van Loggerenberg et  al. functionally assay ∼90% of all possible missense variants in HMBS, which is associated with acute intermittent porphyria. The resulting variant effect maps reveal sequence-structure-function relationships and provide evidence to distinguish pathogenic from benign variants.

Source: The American Journal of Human Genetics - September 19, 2023 Category: Genetics & Stem Cells Authors: Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Fr ésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Floderus, Caroline Tags: Article Source Type: research