Unveiling Rare Genetic Variants in DAB2IP : New Insights Into the Pathogenesis of Recurrent Angioedema

Le résumé fourni par la source

The data that support the findings of this study are available from the corresponding author upon reasonable request. Table S1:List of DAB2IP gene variants identified in the study cohort. Figure S1: Schematic diagram of DAB2IP domains and localization of identified DAB2IP gene variations. DAB2IP functional domains interact with ASK1, GSK3β, VEGFR2, and PP2A (C2); RasGTP (GAP); AKT (PER); PI3K p85 subunit (PR). Protein domain boundaries are from UniProt (https://www.uniprot.org/uniprotkb/Q5VWQ8/entry), except for PER (ref 33; Fig.S3) and LZ (https://2zip.molgen.mpg.de/). PH: pleckstrin homology domain; C2: protein kinase C-conserved domain 2; GAP: GTPase-activating protein domain; PER: period-like domain; PR: proline-rich domain; LZ: leucine-zipper domain. Figure S2: Effects of DAB2IP variants on protein structure as predicted using the DynaMut2 online server. The normal and the mutated amino acid at #590 (upper panel: A and B, respectively) and #984 (lower panel: C and D, respectively) are shown. Types of bonds forming among residues are shown (legend at the bottom). Arrows indicate bonds differing between the normal and the variant molecule. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.