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
- Other Figures
- (all 10)
- All Figure Page
- Back to All Figure Page
(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. |