FIGURE

Fig. 1

ID

ZDB-FIG-240405-2

Publication

Lin et al., 2023 - Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

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Fig. 1

Genetic analysis of families with hereditary spastic paraplegia. (A) Pedigrees of the six HSP (hereditary spastic paraplegia) families harboring compound heterozygous variants in COQ4. Filled and empty symbols represent affected and unaffected individuals, respectively. Arrows indicate the proband in each family. Sanger sequencing traces confirming the compound heterozygous variants in HSP families. Dash symbols in brackets indicate wild-type alleles. (B) Distribution of COQ4 variants and conservation analysis in representative vertebrates. Upper horizontal axis shows a scale of conservation score (1–9) from highly variable to conserved. Lower horizontal axis represents AlphaFold secondary structure prediction for human COQ4 protein (UniProt No. Q9Y3A0). MTS, mitochondrial targeting sequence. (C) Side and top-down views of the human COQ4 structural model. Mapping of mitochondriopathy-related mutations onto the COQ4 protein model (yellow highlight). Gray box summarizes COQ4 variants identified in this study. [Color figure can be viewed at wileyonlinelibrary.com]

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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