Figure 12.
Structure and functional domain map of variants in CTNND1 (Catenin delta-1). Pathogenic and likely pathogenic variants are indicated for those linked to FEVR (red circles) and those linked to other developmental conditions (black circles). The bottom row * indicates the location of nonsense (stop codon) variants. Exploration of additional non-pathogenic variants can be found in the UniProt database: https://www.uniprot.org/uniprotkb/O60716 (accessed on 27 October 2023).