Reactome | PTEN missense mutation that results in the substitution of a...

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created	[InstanceEdit:2317488] Orlic-Milacic, M, 2012-06-11
dbId	2317489
displayName	PTEN missense mutation that results in the substitution of a...
literatureReference	[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2317505] Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association
modified	[InstanceEdit:2318362] Orlic-Milacic, M, 2012-06-13
schemaClass	Summation
text	PTEN missense mutation that results in the substitution of arginine at position 173 with cysteine affects the phosphatase domain of PTEN. Arginine residue R173 is involved in the formation of intedomain hydrogen bonds between the phosphatase domain and the membrane-binding C2 domain (Lee et al. 1999). PTEN R173C (Arg173Cys) mutant shows markedly decreased phosphoinositide phosphatase activity (Han et al. 2000).

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