UniProtKB/Swiss-Prot Q13822: Variant p.Ser493Pro

Ectonucleotide pyrophosphatase/phosphodiesterase family member 2
Gene: ENPP2
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Variant information Variant position:

493 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 Serine (S) to Proline (P) at position 493 (S493P, p.Ser493Pro). 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 small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs10283100 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GDHGFDNKVNSMQTVFVGYG S TFKYKTKVPPFENIELYNVM 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                         GDHGFDNKVNSMQTVFVGYGSTFKYKTKVPPFENIELYNVM

Mouse                         GDHGFDNKVNSMQTVFVGYGPTFKYRTKVPPFENIELYNVM

Rat                           GDHGFDNKVNSMQTVFVGYGPTFKYRTKVPPFENIELYNVM

Bovine                        GDHGFDNKVNSMQTVFVGYGPTFKYKTKVPPFENIELYNVM

Caenorhabditis elegans        GDHGYDYHNENMHTVMFARGPSFLQNVTVPSFQNVQYMNLW

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	36 – 863	Ectonucleotide pyrophosphatase/phosphodiesterase family member 2
Binding site	475 – 475
Disulfide bond	414 – 806

Literature citations
cDNA cloning of the human tumor motility-stimulating protein, autotaxin, reveals a homology with phosphodiesterases.
Murata J.; Lee H.Y.; Clair T.; Krutzsch H.C.; Arestad A.A.; Sobel M.E.; Liotta L.A.; Stracke M.L.;
J. Biol. Chem. 269:30479-30484(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); PARTIAL PROTEIN SEQUENCE; CHARACTERIZATION; VARIANT PRO-493; Molecular cloning and chromosomal assignment of the human brain-type phosphodiesterase I/nucleotide pyrophosphatase gene (PDNP2).
Kawagoe H.; Soma O.; Goji J.; Nishimura N.; Narita M.; Inazawa J.; Nakamura H.; Sano K.;
Genomics 30:380-384(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-45; TISSUE SPECIFICITY; VARIANT PRO-493; Cloning, chromosomal localization, and tissue expression of autotaxin from human teratocarcinoma cells.
Lee H.Y.; Murata J.; Clair T.; Polymeropoulos M.H.; Torres R.; Manrow R.E.; Liotta L.A.; Stracke M.L.;
Biochem. Biophys. Res. Commun. 218:714-719(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT PRO-493; Inhibition of autotaxin by lysophosphatidic acid and sphingosine 1-phosphate.
van Meeteren L.A.; Ruurs P.; Christodoulou E.; Goding J.W.; Takakusa H.; Kikuchi K.; Perrakis A.; Nagano T.; Moolenaar W.H.;
J. Biol. Chem. 280:21155-21161(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; ACTIVITY REGULATION; VARIANT PRO-493; Murine and human autotaxin alpha, beta, and gamma isoforms: gene organization, tissue distribution, and biochemical characterization.
Giganti A.; Rodriguez M.; Fould B.; Moulharat N.; Coge F.; Chomarat P.; Galizzi J.-P.; Valet P.; Saulnier-Blache J.-S.; Boutin J.A.; Ferry G.;
J. Biol. Chem. 283:7776-7789(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); PROTEIN SEQUENCE OF 36-42 AND 49-54; CATALYTIC ACTIVITY; ACTIVITY REGULATION; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANT PRO-493; 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 1); VARIANT PRO-493; Identification, purification, and partial sequence analysis of autotaxin, a novel motility-stimulating protein.
Stracke M.L.; Krutzsch H.C.; Unsworth E.J.; Aarestad A.; Cioce V.; Schiffmann E.; Liotta L.A.;
J. Biol. Chem. 267:2524-2529(1992)
Cited for: PROTEIN SEQUENCE OF 256-266; 370-392; 457-463; 481-496; 501-510; 545-554; 639-643; 706-710 AND 829-840; FUNCTION; SUBCELLULAR LOCATION; VARIANT PRO-493;

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.