Table 2.
Functional analysis of PTEN PHTS variants of unknown significance.
| Variant1 | Phosphatase activity2 | Expression3 | Stability3 | Localization PTEN4 | Localization PTEN 1-3754 | Asp301- cleavage5 |
|---|---|---|---|---|---|---|
| WT | +++ | +++ | +++ | C | N | + |
| T26I c.77 C > T | + | +++ | +++ | C | N | - |
| P95R c.284 C > G | - | +++ | +++ | C | N/C, N | - |
| Y177N c.529 T > A | + | + | + | C | N/C | (?) |
| Q261E c.781 C > G | +++ | +++ | +++ | C | N | + |
| T277A c.829 A > G | +++ | + | + | C | N/C | (?) |
| D310G c.929 A > G | +++ | +++ | +++ | C | N | + |
1PTEN protein variants are indicated with the single-letter code amino acid nomenclature. DNA germline variants are indicated following HGVS recommended nomenclature. Nucleotide and amino acid numbering corresponds to accessions NM_000314.8 and NP_000305.3, respectively.
2As determined both in mammalian and yeast cells.; -lack of activity; +, diminished activity. +++, similar activity to PTEN WT
3+, diminished compared to PTEN WT+++, similar to PTEN WT;.
4Major subcellular localization in PTEN or PTEN 1-375 background. N nuclear, N/C nuclear/cytoplasmic, C cytoplasmic
5As determined using the anti-PTEN SP227 antibody. Determination of cleavage on Y177N and T277A variants is hampered by their low expression and it is indicated as (?).