Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Fig. 1

Simplified representation of the MTOR signaling network. Green arrows indicate the specific substrates shown to be phosphorylated/over-stimulated by p.E1799K-hyperactivated MTOR kinase. Other symbols and abbreviations used: stimulatory effects (); inhibitory effects (); 4E-BP1 (Eukaryotic Translation Initiation Factor 4E-Binding Protein 1); AKT (AKT/ Protein Kinase B); MTOR (Mammalian Target of Rapamycin); PI3K (Phosphoinositide 3-Kinase); PTEN (Phosphatase and Tensin Homolog); RAS (Rat Sarcoma Viral Oncogene Homolog); S6K (Ribosomal P70 S6 Kinase 1); TORC1 (MTOR Complex 1); TORC2 (MTOR Complex 2) TSC1 (Tuberous Sclerosis 1); TSC2 (Tuberous Sclerosis 2)

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us