Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer.

ABSTRACT: The phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene encodes a tumor suppressor phosphatase that has recently been found to be frequently mutated in patients with endometriosis, endometrial cancer and ovarian cancer. Here, we present the first computational analysis of 13 somatic missense PTEN mutations associated with these phenotypes. We found that a majority of the mutations are associated in conserved positions within the active site and are clustered within the signature motif, which contain residues that play a crucial role in loop conformation and are essential for catalysis. In silico analyses were utilized to identify the putative effects of these mutations. In addition, coarse-grained models of both wild-type (WT) PTEN and mutants were constructed using elasti

SUBMITTER: Smith IN 

PROVIDER: S-EPMC5073044 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature