Variant position: 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 403 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EDDNHVAAIHCKAGKGRTGV MICAYLLHRGKFLKAQEALDF
Mouse EDDNHVAAIHCKAGKGRTGV MICAYLLHRGKFLKAQEALDF
Rat EDDNHVAAIHCKAGKGRTGV MICAYLLHRGKFLKAQEALDF
Xenopus laevis ENEN-VAAIHCKAGKGRTGV MICAYLLHRGKFPRAQEALDF
Caenorhabditis elegans ADDKHVIAVHCKAGKGRTGV MICALLIYINFYPSPRQILDY
Slime mold EDSKNIAVIHCKAGKGRTGL MICCWLMYCGMWKNTEDSLRF
Fission yeast TQPLLTLVVHCKAGKGRTGT VICSYLVAFGG-LTAKQSLEL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 403 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
14 – 185 Phosphatase tensin-type
124 – 124 Phosphocysteine intermediate
124 – 124 C -> A. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.
125 – 125 K -> M. Reduced phosphatase activity towards PtdIns(3,4,5)P3, PtdIns(3,4)P2 and PtdIns(3)P.
126 – 126 A -> P. Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.
126 – 126 A -> S. Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.
126 – 126 A -> V. Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.
128 – 128 K -> M. 85% reduction in phosphatase activity towards PtdIns(3,4,5)P3.
128 – 128 K -> R. Does not reduce phosphatase activity towards PtdIns(3,4,5)P3.
130 – 130 R -> M. Does not affect the ability to inhibit AKT/PKB activation.
129 – 141
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
Li J.; Yen C.; Liaw D.; Podsypanina K.; Bose S.; Wang S.I.; Puc J.; Miliaresis C.; Rodgers L.; McCombie R.; Bigner S.H.; Giovanella B.C.; Ittmann M.; Tycko B.; Hibshoosh H.; Wigler M.H.; Parsons R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLIOBLASTOMA ARG-129 AND PROSTATE CANCER LEU-134;
P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
Myers M.P.; Stolarov J.P.; Eng C.; Li J.; Wang S.I.; Wigler M.H.; Parsons R.; Tonks N.K.;
Proc. Natl. Acad. Sci. U.S.A. 94:9052-9057(1997)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS GLIOMA TRP-57; ENDOMETRIAL CANCER TYR-123; GLIOBLASTOMA ARG-129; CWS1 ARG-129; PROSTATE CANCER LEU-134; GLIOBLASTOMA ARG-165; BREAST CANCER PRO-167 AND BZ ARG-170;
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
Han S.-Y.; Kato H.; Kato S.; Suzuki T.; Shibata H.; Ishii S.; Shiiba K.; Matsuno S.; Kanamaru R.; Ishioka C.;
Cancer Res. 60:3147-3151(2000)
Cited for: CHARACTERIZATION OF VARIANTS ASN-10; CYS-16; GLU-20; SER-27; ARG-61; HIS-68; ARG-112; PRO-121; ARG-129; GLY-130; ILE-133; LEU-134; ARG-165; ASN-170; CYS-173; HIS-173; PRO-173; ASN-174; PHE-227; CYS-251; GLN-345; GLY-369 AND ILE-401; CHARACTERIZATION OF VARIANTS CWS1 TYR-71; TYR-93; PHE-105; TYR-107; PRO-112; ARG-124; GLU-129; LEU-130; GLN-130; TYR-136; CYS-155; ARG-170; GLU-289; GLY-331; VAL-341; ASN-342; GLU-343 AND LEU-347;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.