Fig. 1: A new RRAGD mutation associated with tubulopathy and cardiomyopathy. | Nature Communications

Fig. 1: A new RRAGD mutation associated with tubulopathy and cardiomyopathy.

From: RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Fig. 1

a Representative image of left ventricle ultrasound from patient II.1, showing ventricle dilatation (Left ventricular end-diastolic diameter 62 mm and area 42,02 cm2). b Representative image of kidney ultrasound of patient III.15; showing severe medullary nephrocalcinosis. c Pedigree of the family and indication of the individuals carrying the p.P88L RRAGD mutation. Filled symbols represent affected individuals carrying the mutation and symptomatic for kidney and/or heart abnormalities. d Domain organization of RagD protein with GTP-binding motifs reported in light gray (G1–G5). Pathogenic mutations affecting RagD protein stability, binding to GTP, and Mg2+ coordination are indicated in orange, green, and magenta, respectively.

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