Figure 3
From: A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73
PTPRQ protein and genomic structure and its analysis by NGS (gene panel and WES). (a) Scheme of the PTPRQ protein with protein domains (FN3, fibronectin type III repeats; TM, transmembrane domain; tyrosine PP, tyrosine protein phosphatase, with active site indicated). All Human Gene Mutation Database–listed mutations are indicated (localizations to scale; truncating mutations indicated above, missense mutations below the scheme). The C-terminal autosomal-dominant nonsyndromic hearing loss (ADNSHL)–associated nonsense mutation described herein is shown in red. (b) Coverage plots from NGS, both gene panel and whole-exome sequencing (WES), related to the PTPRQ RefSeq isoform NM_001145026.1. The 45 exons are completely covered in the panel setup. (c) Coverage plots from NGS, extended gene panel, and WES, related to all N-SCAN–predicted coding regions of a hypothetical “extended“ fusion transcript including both PTPRQ, some interspersed exons, and the adjacent OTOGL gene, NM_173591.3. The red box highlights sequences that are not contained in NM_001145026.1, but which have been proposed as PTPRQ exons assigned by Schraders et al.19
