FIGURE

Figure 1.

ID

ZDB-FIG-240416-42

Publication

Li et al., 2024 - FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System

Other Figures

All Figure Page

Back to All Figure Page

Figure 1.

Functional characterization of FARS2 variants identified in hypertrophic cardiomyopathy. A, Pedigrees. Sanger validation of FARS2 variant and echocardiography of the patients in family 1. B, A graphical illustration of FARS2 sequence conservation (bottom) based on ConSurf conservation score. The domain structure and positions of identified patient variants (red symbols) are indicated. C, Species conservation of FARS2 (mitochondrial phenylalanyl-tRNA synthetase) amino acids p.R7, p.G103, p.Q228, p.K351, p.R386, p.T407, and p.R415. D, A structural model of wild-type (WT) human FARS2 (AlphaFold Protein Structure Database O95363 [SYFM_HUMAN]), highlighting the sites of FARS2 variants (p.Arg7Ser, p.Gly103Val, p.Gln228Glu, p.Lys351Gln, p.Arg386Gln, p.Thr407Met, and p.Arg415Leu). E, The expression level of FARS2 from HeLa cells transfected with empty vector control, WT, or 7 variant vectors. The relative statistical analysis is shown in the bottom panel (n=3 per group). F, Confocal images of HeLa cells transfected with HA-FARS2 constructs and immunolabeled with TOMM20 (mitochondrial marker). The regions were magnified with split channels beneath each group and boxed with red (HA) or green (TOMM20). The representative colocalization parts are emphasized by blue arrows; the noncolocalization parts are highlighted by red asterisks. Scale bar=10 μm. *P<0.05; ****P<0.0001.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Circulation