Localization and Conservation of De Novo Variants in CDH2
(A) A schematic depiction of CDH2 shows the cadherin-Pro region (Pro), five extracellular cadherin domain repeats (EC-1 to EC-5), the transmembrane region (TM), and the cytoplasmic tail (C). Arrowheads above the protein show the positions of the variants.
(B) The HomoloGene-generated amino acid alignment of human CDH2 and its predicted orthologs shows the conservation of the affected residues.