UniProtKB/Swiss-Prot P00749: Variant p.Leu141Pro

Urokinase-type plasminogen activator
Gene: PLAU
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Variant information Variant position:

141 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 Leucine (L) to Proline (P) at position 141 (L141P, p.Leu141Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs2227564 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YCRNPDNRRRPWCYVQVGLK L LVQECMVHDCADGKKPSSPP 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                         YCRNPDNRRRPWCYVQVGLKLLVQECMVHDCA---------DGKKPSSPP

Mouse                         YCRNPDNQKRPWCYVQIGLRQFVQECMVHDCS---------

Rat                           YCRNPDNQRRPWCYVQIGLKQFVQECMVQDCS---------

Pig                           YCRNPDNQRRPWCYVQVGLKQLVQECMVPNCSGGESHRPAY

Bovine                        YCRNPDNQRRPWCYVQIGLKQFVQFCMVQDCS---------

Rabbit                        YCRNPDHQRRPWCYVQVGLKQLIQECKVHDCS---------

Chicken                       YCRNPNGRSRPWCYTK------------RRYS---------

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	21 – 431	Urokinase-type plasminogen activator
Chain	21 – 177	Urokinase-type plasminogen activator long chain A
Domain	70 – 151	Kringle
Modified residue	158 – 158	Phosphoserine
Disulfide bond	70 – 151
Disulfide bond	122 – 146
Mutagenesis	158 – 158	S -> E. Abolishes phosphorylation, proadhesive function and ability to induce chemotactic response; when associated with E-323.
Beta strand	140 – 147

Literature citations
Cloning and expression of the gene for pro-urokinase in Escherichia coli.
Holmes W.E.; Pennica D.; Blaber M.; Rey M.W.; Guenzler W.A.; Steffens G.J.; Heyneker H.L.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-141; Molecular cloning, sequencing, and expression in Escherichia coli of human preprourokinase cDNA.
Jacobs P.; Cravador A.; Loriau R.; Brockly F.; Colau B.; Chuchana P.; van Elsen A.; Herzog A.; Bollen A.;
DNA 4:139-146(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-141; Molecular cloning of cDNA coding for human preprourokinase.
Nagai M.; Hiramatsu R.; Kaneda T.; Hayasuke N.; Arimura H.; Nishida M.; Suyama T.;
Gene 36:183-188(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-141; The human urokinase-plasminogen activator gene and its promoter.
Riccio A.; Grimaldi G.; Verde P.; Sebastio G.; Boast S.; Blasi F.;
Nucleic Acids Res. 13:2759-2771(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-141 AND MET-214; Cloning of human full-length CDSs in BD Creator(TM) System Donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT PRO-141; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT PRO-141; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-15; PRO-141 AND GLN-231; Submission
Mural R.J.; Istrail S.; Sutton G.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 PRO-141; 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-141; Identification and primary sequence of an unspliced human urokinase poly(A)+ RNA.
Verde P.; Stoppelli M.P.; Galeffi P.; di Nocera P.; Blasi F.;
Proc. Natl. Acad. Sci. U.S.A. 81:4727-4731(1984)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 66-431; VARIANTS PRO-141 AND MET-214; The primary structure of high molecular mass urokinase from human urine. The complete amino acid sequence of the A chain.
Gunzler W.A.; Steffens G.J.; Otting F.; Kim S.-M.A.; Frankus E.; Flohe L.;
Hoppe-Seyler's Z. Physiol. Chem. 363:1155-1165(1982)
Cited for: PROTEIN SEQUENCE OF 21-177; VARIANT PRO-141; Detection of polymorphisms in the human urokinase-type plasminogen activator gene.
Conne B.; Berczy M.; Belin D.;
Thromb. Haemost. 77:434-435(1997)
Cited for: VARIANT PRO-141; Mutational analysis of the genes encoding urokinase-type plasminogen activator (uPA) and its inhibitor PAI-1 in advanced ovarian cancer.
Turkmen B.; Schmitt M.; Schmalfeldt B.; Trommler P.; Hell W.; Creutzburg S.; Graeff H.; Magdolen V.;
Electrophoresis 18:686-689(1997)
Cited for: VARIANT PRO-141; DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
Ley T.J.; Mardis E.R.; Ding L.; Fulton B.; McLellan M.D.; Chen K.; Dooling D.; Dunford-Shore B.H.; McGrath S.; Hickenbotham M.; Cook L.; Abbott R.; Larson D.E.; Koboldt D.C.; Pohl C.; Smith S.; Hawkins A.; Abbott S.; Locke D.; Hillier L.W.; Miner T.; Fulton L.; Magrini V.; Wylie T.; Glasscock J.; Conyers J.; Sander N.; Shi X.; Osborne J.R.; Minx P.; Gordon D.; Chinwalla A.; Zhao Y.; Ries R.E.; Payton J.E.; Westervelt P.; Tomasson M.H.; Watson M.; Baty J.; Ivanovich J.; Heath S.; Shannon W.D.; Nagarajan R.; Walter M.J.; Link D.C.; Graubert T.A.; DiPersio J.F.; Wilson R.K.;
Nature 456:66-72(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] PRO-141;

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