Figure 1.

The Sanger sequencing and genetic locations of rare, putative pathogenic variants. (A) Sequence of the c.712A>G (p.R238G) variant sequence. Ref: reference sequence in NCBI. (B) Schematic representation of the DNAJC7 transcript NM_003315. Previously reported rare, putative pathogenic missense variants (black font); previously reported rare, protein truncated variants (blue font); novel putative pathogenic variant (red font with an asterisk); and rare variant predicted to be benign (gray font). (C) Schematic representation of the DNAJC7 protein. Previously reported rare, putative pathogenic missense variants (black font); previously reported rare, protein truncated variants (blue font; the splicing variant is not shown because it affects non-coding regions of the gene); novel putative pathogenic variant (red font with an asterisk); and rare variant predicted to be benign (gray font). Pink block denotes low complexity region. TPR, tetratricopeptide repeat; DnaJ, DnaJ molecular chaperone homology domain.