FIGURE

Fig. 2

ID

ZDB-FIG-220608-34

Publication

Zou et al., 2022 - Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report

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Fig. 2

IARS1 variations and gene structure. a Pedigrees of this family with recessive inherited mutations in IARS1. This patient had two missense variants, and her parents each carried one of the mutations. b Sanger sequencing for these two variations in this family. Left panel is variant c.701?T?>?C (p.Leu234Pro) (upper) and the normal control at this site (lower); right panel is variant c.1555C?>?T (p.R519C) (upper) and the normal control at this site (lower). c Structure of IARS1 (NM_002161, NP_002152) with known conserved protein domains in the gene product and localization and conservation of amino acid residues affected by variants identified in this family. Intronic regions are not drawn to scale

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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