UniProtKB/Swiss-Prot P60484 : Variant p.Ser170Arg
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
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Variant information
Variant position:
170
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change:
170 (S170R, p.Ser170Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
170
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:
S QRRYVYYYSYLLKNHLDYRP
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 EALDFYGEVRTRDKKGVTIPS QRRYVYYYSYLLKNHLDYRP
EALDFYGEVRTRDKKGVTIPS QRRYVYYYSYLLKNHLDYRP
Mouse EALDFYGEVRTRDKKGVTIPS QRRYVYYYSYLLKNHLDYRP
Rat EALDFYGEVRTRDKKGVTIPS QRRYVYYYSYLLKNHLDYRP
Xenopus laevis EALDFYGEVRTRDKKGVTIPS QRRYVYYYSYLLKNSLEYRP
Caenorhabditis elegans QILDYYSIIRTKNNKGVTIPS QRRYIYYYHKLRERELNYLP
Slime mold DSLRFYAALRTYNQKGVTIPS QIRYVGYFGRSIRESIKYVP
Fission yeast QSLELYTEKRMVRGHGLTISS QIRYVYYIE-ILKQFPNY--
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
Chain
2 – 403 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Domain
14 – 185 Phosphatase tensin-type
Alternative sequence
165 – 190 GVTIPSQRRYVYYYSYLLKNHLDYRP -> ADPTGGIPDKGIIVIGDGSSMDVIAP. In isoform 3.
Mutagenesis
167 – 167 T -> AD. 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3.
Mutagenesis
171 – 171 Q -> AE. 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.
Helix
169 – 184
Literature citations
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;
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
Marsh D.J.; Dahia P.L.M.; Zheng Z.; Liaw D.; Parsons R.; Gorlin R.J.; Eng C.;
Nat. Genet. 16:333-334(1997)
Cited for: VARIANT CWS1 ARG-170;
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Marsh D.J.; Kum J.B.; Lunetta K.L.; Bennett M.J.; Gorlin R.J.; Ahmed S.F.; Bodurtha J.; Crowe C.; Curtis M.A.; Dasouki M.; Dunn T.; Feit H.; Geraghty M.T.; Graham J.M. Jr.; Hodgson S.V.; Hunter A.; Korf B.R.; Manchester D.; Miesfeldt S.; Murday V.A.; Nathanson K.L.; Parisi M.; Pober B.; Romano C.; Tolmie J.L.; Trembath R.; Winter R.M.; Zackai E.H.; Zori R.T.; Weng L.-P.; Dahia P.L.M.; Eng C.;
Hum. Mol. Genet. 8:1461-1472(1999)
Cited for: VARIANTS CWS1 ASP-34; HIS-68; TYR-105; VAL-135; ARG-170 AND LEU-246;
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;
Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.
Marsh D.J.; Theodosopoulos G.; Howell V.; Richardson A.-L.; Benn D.E.; Proos A.L.; Eng C.; Robinson B.G.;
Neoplasia 3:236-244(2001)
Cited for: VARIANTS CWS1 ASP-34; GLY-47; HIS-68; TYR-105; VAL-135 AND ARG-170;
Disclaimer:
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.
