Fig. 2

Molecular findings. (a) Pedigree of family 1 and electropherograms showing the homozygous WARS1 variant c.397C>T in individual 1. Both parents are heterozygous carriers. (b) Pedigree of family 2 and electropherograms showing the homozygous WARS1 (NM_004184.4) variant c.397C>T; p.(Arg133Cys) in individuals 2-4. (c) Pedigree of family 3 and electropherograms. Variant c.904C>T; p.(Arg302Cys) in SARS1 (NM_006513.4) is heterozygous in individual 5 and her mother. Variant c.1168C>T; p.(Arg390Cys) is heterozygous in individual 5 and her father. (d) Schematic representation of WARS1 and SARS1 proteins. Localization of the identified variants is indicated with a red arrow. Black arrows indicate the variants previously identified by Musante et al. and Ravel et al. Domain annotation according to Shen et al. (2006) for WARS1 and Xu et al. (2013) for SARS1. One-letter amino acid code is used for clarity. C, Cys; D, Asp; N, Asn; L, Leu; R, Arg.