Protein Structure from Scientific Research

AlphaFold-predicted human LRRC7 protein structure (AF-Q96NW7-F1) covering the leucine-rich repeat region with high predicted structural confidence (amino acid positions 86-463). The fifth and eighth LRR domains where missense de novos were found are highlighted in blue. Reference alleles for missense de novo variants observed across two UDN patients (red) are shown in circles. A depiction of LRRC7 ’s linear protein sequence (Ensembl ID ENSP00000498937) with InterPro predicted domains shown in colored boxes is below.

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