PTEN missense mutation that results in the substitution of histidine at position 123 with tyrosine 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. Replacement of the histidine residue in this motif, corresponding to H123 of human PTEN, with tyrosine results in a markedly decreased phosphoinositide phosphatase activity (Lee et al. 1999).
Lee, JO, Yang, H, Georgescu, MM, Di Cristofano, A, Maehama, T, Shi, Y, Dixon, JE, Pandolfi, P, Pavletich, NP
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