UniProtKB/Swiss-Prot P60484: Variant p.His61Arg

Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
Gene: PTEN
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Variant information Variant position:

61 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Histidine (H) to Arginine (R) at position 61 (H61R, p.His61Arg). 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:

Change from medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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).

More information can be found on the following page
Variant description:

Loss of phosphatase activity towards Ins(1,3,4,5)P4. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs398123316 [ dbSNP | Ensembl ]

Sequence information Variant position:

61 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:

RLEGVYRNNIDDVVRFLDSK H KNHYKIYNLCAERHYDTAKF 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                         RLEGVYRNNIDDVVRFLDSKH-KNHYKIYNLCAERH-YDTAKF

                              RLEGVYRNNIDDVVRFLDSKH-KNHYKIYNLCAERH-YDTA

Mouse                         RLEGVYRNNIDDVVRFLDSKH-KNHYKIYNLCAERH-YDTA

Rat                           RLEGVYRNNIDDVVRFLDSKH-KNHYKIYNLCAERH-YDTA

Xenopus laevis                RLEGVYRNNIDDVVRFLDSKH-KNHYKIYNLCAERH-YDTN

Caenorhabditis elegans        GIEANFRNSKVQTQQFLTRRHGKGNVKVFNLRGGYY-YDAD

Slime mold                    KVEGVFRNPMKDVQRFLDQYH-KDHFKVYNLCSERV-YDHS

Fission yeast                 GIHKLYRNDELDVFKYLTTQL-KDNWILLNLCAEETVYHLE

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	55 – 70	RFLDSKHKNHYKIYNL -> S. In isoform 3.
Beta strand	61 – 63

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.