Fig. 1
Pedigree, air conduction thresholds, and protein sequence alignment in individuals with HARS2 variants listed in Table 1. a Pedigrees for families F1–F3. Filled icons indicate affected individuals. b Audiograms from affected individuals in families F1, F2, and F3. All affected individuals have bilateral sensorineural across all frequencies. Proband F1-II-1 shows lower air conduction thresholds in lower frequencies. Circles represent the right ear and crosses the left ear, dB decibels. Audiograms were created using the AudGen online tool (version 0.71) (http://audsim.com/audgen/). c The conservation of histidyl-tRNA synthetase across multiple species. The variant residues p.Arg138 and p.Arg480 are shown in the red boxes. Numbering relates to the human HARS2 protein (GenPept: NP_036340.1). Sequences for each species are as follows; chimpanzee UniProt: A0A2I3RUB6, dog UniProt:F6XKV4, rat GenPept:NP_001014034.2, mouse GenPept:NP_542367.1, chicken UniProt:A0A1D5P330, xenopus UniProt:F7A0W8, zebrafish GenPept:NP_001289185.1, tetraodon UniProt: H3CFH8, C. elegans GenPept:NP_001023373.2, S. cerevisiae GenPept:NP_015358.1, and E. coli HisRS UniProt: P60906.
