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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60484: Variant p.Arg173His

Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Gene: PTEN
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Variant information Variant position: help 173
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 173 (R173H, p.Arg173His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help Loss of phosphatase activity towards Ins(1,3,4,5)P4.
Other resources: help


Sequence information Variant position: help 173
Protein sequence length: help 403
Location on the sequence: help DFYGEVRTRDKKGVTIPSQR R YVYYYSYLLKNHLDYRPVAL
Residue conservation: help
Human                         DFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVAL

                              DFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVAL

Mouse                         DFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVAL

Rat                           DFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVAL

Xenopus laevis                DFYGEVRTRDKKGVTIPSQRRYVYYYSYLLKNSLEYRPVPL

Caenorhabditis elegans        DYYSIIRTKNNKGVTIPSQRRYIYYYHKLRERELNYLPLRM

Slime mold                    RFYAALRTYNQKGVTIPSQIRYVGYFGRSIRESIKYVPRNV

Fission yeast                 ELYTEKRMVRGHGLTISSQIRYVYYIE-ILKQFPNY-----

Sequence annotation in neighborhood: help
TypePositionsDescription
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
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;
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.