UniProtKB/Swiss-Prot Q13332: Variant p.Cys1457Arg

Receptor-type tyrosine-protein phosphatase S
Gene: PTPRS
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Variant information Variant position:

1457 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 Cysteine (C) to Arginine (R) at position 1457 (C1457R, p.Cys1457Arg). 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 (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Other resources:

Links to websites of interest for the variant.

Variant rs4807697 [ dbSNP | Ensembl ]

Sequence information Variant position:

1457 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1948 The length of the canonical sequence.
Location on the sequence:

PIEGIMGSDYINANYVDGYR C QNAYIATQGPLPETFGDFWR 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                         PIEGIMGSDYINANYVDGYRCQNAYIATQGPLPETFGDFWR

Mouse                         PLEGIMGSDYINANYVDGYRRQNAYIATQGPLPETFGDFWR

Rat                           PLEGIMGSDYINANYVDGYRRQNAYIATQGPLPETFGDFWR

Chicken                       PIEGIVGSDYINANYIDGYRKQNAYIATQGPLPETFGDFWR

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	30 – 1948	Receptor-type tyrosine-protein phosphatase S
Topological domain	1304 – 1948	Cytoplasmic
Domain	1393 – 1648	Tyrosine-protein phosphatase 1
Beta strand	1457 – 1464

Literature citations
The LAR/PTP delta/PTP sigma subfamily of transmembrane protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1.
Pulido R.; Serra-Pages C.; Tang M.; Streuli M.;
Proc. Natl. Acad. Sci. U.S.A. 92:11686-11690(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CATALYTIC ACTIVITY; FUNCTION; INTERACTION WITH PPFIA1; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANT ARG-1457; Human protein tyrosine phosphatase-sigma: alternative splicing and inhibition by bisphosphonates.
Endo N.; Rutledge S.J.; Opas E.E.; Vogel R.; Rodan G.A.; Schmidt A.;
J. Bone Miner. Res. 11:535-543(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); CATALYTIC ACTIVITY; TISSUE SPECIFICITY; ALTERNATIVE SPLICING; VARIANT ARG-1457; Submission
Mural R.J.; Istrail S.; Sutton G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ARG-1457; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANT ARG-1457;

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.