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. Author manuscript; available in PMC: 2024 Aug 18.
Published in final edited form as: Clin Genet. 2023 Mar 13;103(6):699–703. doi: 10.1111/cge.14312

FIGURE 1.

FIGURE 1

Hearing loss and retinal dystrophy associated with LRP2 variants. (A–C) Pedigrees of Families 1, 2, and 3. (D) The 79 coding exons of LRP2 and locations of reported splice variants. (E) Protein domains of LRP2 protein (RefSeq ID NP_004516.2) with reported missense variants (modified from Kantarci et al.7). (F) Conservation of human Thr-50, Asn-1669, Cys-3150, and Tyr-3933 residues in LRP2 orthologues (RefSeq ID: Human, NP_004516.2; Chimp, XP_009441920.3; Rhesus, XP_014965780.2; Mouse, NP_001074557.1; Rat, NP_110454.2; Platypus, XP_028927340.1; Zebrafish, NP_001181916.1).