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Details on Person PTEN missense mutation that results in the substitution of a...
| Class:Id | Summation:2317415 |
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| _displayName | PTEN missense mutation that results in the substitution of a... |
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| _timestamp | 2012-06-14 19:44:12 |
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| created | [InstanceEdit:2317407] Orlic-Milacic, M, 2012-06-11 |
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| literatureReference | [LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay
[LiteratureReference:2317403] Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations
[LiteratureReference:2317493] Crystal structure of human protein tyrosine phosphatase 1B
[LiteratureReference:2317505] Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association |
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| modified | [InstanceEdit:2317431] Orlic-Milacic, M, 2012-06-11
[InstanceEdit:2317491] Orlic-Milacic, M, 2012-06-12
[InstanceEdit:2317508] Orlic-Milacic, M, 2012-06-12
[InstanceEdit:2318618] Orlic-Milacic, M, 2012-06-14 |
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| text | 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). |
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| (summation) | [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] [Homo sapiens] |
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