FIGURE

Fig 1

ID

ZDB-FIG-200829-79

Publication

Zhang et al., 2020 - THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis

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Fig 1

Pedigrees and genotypes of family SH.

(a) Pedigrees of family SH. The individuals selected for linkage analysis and whole-exome sequencing was marked with asterisks and triangles, respectively. (b) Representative audiograms of family SH. (c) Logarithm of the odds (LOD) scores of genome-wide linkage analysis for chromosome 18. A maximum LOD score of 4.93 was obtained for marker rs928980. (d) Chromatograms of wild type (WT) and mutant (Mut) sequence for c.547C>G (p.L183V). (e) Diagram showing domains of human THOC1 protein and the location of the p.L183V mutation. (f) Multiple sequence alignment of THOC1 showing conservation of the leucine 183 residue.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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