PTEN missense mutation that results in the substitution of arginine at position 130 with glutamine affects the conserved H-C-K/R-A-G-K-G-R sequence (corresponding to HCXXGXXR motif of protein tyrosine phosphatases) in the catalytic cleft of the PTEN phosphatase domain. The arginine residue in this motif, corresponding to R130 of human PTEN, is essential for catalysis (Barford et al. 1994, Lee et al. 1999). PTEN R130Q (Arg130Gln) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000). PTEN R130Q substitution is frequently found in endometrial cancer (Konopka et al. 2007).
Han, SY, Kato, H, Kato, S, Suzuki, T, Shibata, H, Ishii, S, Shiiba, K, Matsuno, S, Kanamaru, R, Ishioka, C
Konopka, B, Janiec-Jankowska, A, Czapczak, D, Paszko, Z, Bidziński, M, Olszewski, W, Goluda, C
© 2021 Reactome
![PTEN R130Q [cytosol] icon](/icon/R-ICO-013990.svg){kind=icon}
