Fig. 2
From: A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
Identification of the pathogenic TRIOBP variant in the proband’s family. a. Sequence of the wild type TRIOBP gene fragment spanning the variant site (1342C). b. Identification of the TRIOBP variant. The proband (IV1) and her younger brother (IV2) carry a homozygous 1342C > T variant, and her mother (III45) and father (III54) carry a heterozygous 1342C > T variant, as indicated by stars. c. Localization of the pathogenic TRIOBP variant. Schematic representations of the genomic structure and alternative transcript classes of TRIOBP: TRIOBP-5, TRIOBP-4 and TRIOBP-1 [1, 5, 7]. The novel c.1342C > T variant is located in exon 7 of TRIOBP-5 gene and alters the coding codon (Arg448) to a stop codon. Arrows, alternative translation start sites; *alternative stop codon; PH, pleckstrin homology domain; CC, coiled-coil domains