PTEN missense mutation that results in the substitution of arginine at position 130 with proline 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 R130P mutant has not been functionally studied but is assumed to have impaired phosphoinositide phosphatase activity, similar to other PTEN R130 substitution mutants (Han et al. 2000).
Han, SY, Kato, H, Kato, S, Suzuki, T, Shibata, H, Ishii, S, Shiiba, K, Matsuno, S, Kanamaru, R, Ishioka, C
Barford, D, Flint, AJ, Tonks, NK
Lee, JO, Yang, H, Georgescu, MM, Di Cristofano, A, Maehama, T, Shi, Y, Dixon, JE, Pandolfi, P, Pavletich, NP
© 2021 Reactome
![PTEN R130P [cytosol] icon](/icon/R-ICO-013990.svg){kind=icon}
