[1]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=2991887 [NCBI, ExPASy, EBI, Israel, Japan]
Foster D.C.,
Yoshitake S.,
Davie E.W.;
"The nucleotide sequence of the gene for human protein C.";
Proc. Natl. Acad. Sci. U.S.A. 82:4673-4677(1985).
|
[2]
|
NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1093/nar/13.14.5233; PubMed=2991859 [NCBI, ExPASy, EBI, Israel, Japan]
Beckmann R.J.,
Schmidt R.J.,
Santerre R.F.,
Plutzky J.,
Crabtree G.R.,
Long G.L.;
"The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs.";
Nucleic Acids Res. 13:5233-5247(1985).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=3511471 [NCBI, ExPASy, EBI, Israel, Japan]
Plutzky J.,
Hoskins J.A.,
Long G.L.,
Crabtree G.R.;
"Evolution and organization of the human protein C gene.";
Proc. Natl. Acad. Sci. U.S.A. 83:546-550(1986).
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
SeattleSNPs program for genomic applications;
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
|
[5]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[6]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 106-461.
PubMed=6589623 [NCBI, ExPASy, EBI, Israel, Japan]
Foster D.C.,
Davie E.W.;
"Characterization of a cDNA coding for human protein C.";
Proc. Natl. Acad. Sci. U.S.A. 81:4766-4770(1984).
|
[7]
|
GLYCOSYLATION AT ASN-371.
PubMed=1694179 [NCBI, ExPASy, EBI, Israel, Japan]
Miletich J.P.,
Broze G.J. Jr.;
"Beta protein C is not glycosylated at asparagine 329. The rate of translation may influence the frequency of usage at asparagine-X-cysteine sites.";
J. Biol. Chem. 265:11397-11404(1990).
|
[8]
|
HYDROXYLATION.
PubMed=1544894 [NCBI, ExPASy, EBI, Israel, Japan]
Harris R.J.,
Ling V.T.,
Spellman M.W.;
"O-linked fucose is present in the first epidermal growth factor domain of factor XII but not protein C.";
J. Biol. Chem. 267:5102-5107(1992).
|
[9]
|
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-290, AND MASS SPECTROMETRY.
TISSUE=Plasma;
DOI=10.1021/pr0502065; PubMed=16335952 [NCBI, ExPASy, EBI, Israel, Japan]
Liu T.,
Qian W.-J.,
Gritsenko M.A.,
Camp D.G. II,
Monroe M.E.,
Moore R.J.,
Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
|
[10]
|
3D-STRUCTURE MODELING OF 175-450.
PubMed=8003977 [NCBI, ExPASy, EBI, Israel, Japan]
Fisher C.L.,
Greengard J.S.,
Griffin J.H.;
"Models of the serine protease domain of the human antithrombotic plasma factor activated protein C and its zymogen.";
Protein Sci. 3:588-599(1994).
|
[11]
|
X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 84-461.
PubMed=9003757 [NCBI, ExPASy, EBI, Israel, Japan]
Mather T.,
Oganessyan V.,
Hof P.,
Huber R.,
Foundling S.,
Esmon C.,
Bode W.;
"The 2.8 A crystal structure of Gla-domainless activated protein C.";
EMBO J. 15:6822-6831(1996).
|
[12]
|
REVIEW ON PROC VARIANTS.
PubMed=8446940 [NCBI, ExPASy, EBI, Israel, Japan]
Reitsma P.H.,
Poort S.R.,
Bernardi F.,
Gandrille S.,
Long G.L.,
Sala N.,
Cooper D.N.;
"Protein C deficiency: a database of mutations.";
Thromb. Haemost. 69:77-84(1993).
|
[13]
|
VARIANT PROC DEFICIENCY CYS-444.
PubMed=2437584 [NCBI, ExPASy, EBI, Israel, Japan]
Romeo G.,
Hassan H.J.,
Staempfli S.,
Roncuzzi L.,
Cianetti L.,
Leonardi A.,
Vicente V.,
Mannucci P.M.,
Bertina R.M.,
Peschle C.,
Cortese R.;
"Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.";
Proc. Natl. Acad. Sci. U.S.A. 84:2829-2832(1987).
|
[14]
|
VARIANT PROC DEFICIENCY TRP-211.
DOI=10.1093/nar/17.24.10513; PubMed=2602169 [NCBI, ExPASy, EBI, Israel, Japan]
Grundy C.B.,
Chitolie A.,
Talbot S.,
Bevan D.,
Kakkar V.V.,
Cooper D.N.;
"Protein C London 1: recurrent mutation at Arg-169 (CGG-->TGG) in the protein C gene causing thrombosis.";
Nucleic Acids Res. 17:10513-10513(1989).
|
[15]
|
VARIANT PROC DEFICIENCY CYS-272.
PubMed=1868249 [NCBI, ExPASy, EBI, Israel, Japan]
Reitsma P.H.,
Poort S.R.,
Allaart C.F.,
Briet E.,
Bertina R.M.;
"The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.";
Blood 78:890-894(1991).
|
[16]
|
VARIANTS PROC DEFICIENCY ALA-62 AND MET-76.
PubMed=1347706 [NCBI, ExPASy, EBI, Israel, Japan]
Bovill E.G.,
Tomczak J.A.,
Grant B.,
Bhushan F.,
Pillemer E.,
Rainville I.R.,
Long G.L.;
"Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.";
Blood 79:1456-1465(1992).
|
[17]
|
VARIANT PROC DEFICIENCY ASP-418.
PubMed=1611081 [NCBI, ExPASy, EBI, Israel, Japan]
Sugahara Y.,
Miura O.,
Yuen P.,
Aoki N.;
"Protein C deficiency Hong Kong 1 and 2: hereditary protein C deficiency caused by two mutant alleles, a 5-nucleotide deletion and a missense mutation.";
Blood 80:126-133(1992).
|
[18]
|
VARIANT PROC DEFICIENCY LEU-289.
PubMed=1511988 [NCBI, ExPASy, EBI, Israel, Japan]
Grundy C.B.,
Chisholm M.,
Kakkar V.V.,
Cooper D.N.;
"A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.";
Hum. Genet. 89:683-684(1992).
|
[19]
|
VARIANTS PROC DEFICIENCY GLN-220 AND TRP-220.
PubMed=1511989 [NCBI, ExPASy, EBI, Israel, Japan]
Grundy C.B.,
Schulman S.,
Tengborn L.,
Kakkar V.V.,
Cooper D.N.;
"Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.";
Hum. Genet. 89:685-686(1992).
|
[20]
|
VARIANT PROC DEFICIENCY GLN-220.
PubMed=1301959 [NCBI, ExPASy, EBI, Israel, Japan]
Gandrille S.,
Vidaud M.,
Aiach M.,
Alhenc-Gelas M.,
Fischer A.M.,
Gouault-Heilman M.,
Toulon P.,
Fiessinger J.-N.,
Goossens M.;
"Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.";
Hum. Mutat. 1:491-500(1992).
|
[21]
|
VARIANT PROC DEFICIENCY SER-334.
PubMed=1593215 [NCBI, ExPASy, EBI, Israel, Japan]
Yamamoto K.,
Matsushita T.,
Sugiura I.,
Takamatsu J.,
Iwasaki E.,
Wada H.,
Deguchi K.,
Shirakawa S.,
Saito H.;
"Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.";
J. Lab. Clin. Med. 119:682-689(1992).
|
[22]
|
VARIANTS PROC DEFICIENCY TRP-38; CYS-42; HIS-42; GLN-271 AND ASN-294.
PubMed=8324221 [NCBI, ExPASy, EBI, Israel, Japan]
Gandrille S.,
Alhenc-Gelas M.,
Gaussem P.,
Aillaud M.-F.,
Dupuy E.,
Juhan-Vague I.,
Aiach M.;
"Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.";
Blood 82:159-168(1993).
|
[23]
|
VARIANTS PROC DEFICIENCY GLY-14; GLN-211; TYR-244; GLN-253; LEU-321; CYS-328; ILE-385; THR-388 AND VAL-388.
PubMed=8499565 [NCBI, ExPASy, EBI, Israel, Japan]
Poort S.R.,
Pabinger-Fasching I.,
Mannhalter C.,
Reitsma P.H.,
Bertina R.M.;
"Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.";
Blood Coagul. Fibrinolysis 4:273-280(1993).
|
[24]
|
VARIANT PROC DEFICIENCY TRP-57.
PubMed=8499568 [NCBI, ExPASy, EBI, Israel, Japan]
Millar D.S.,
Grundy C.B.,
Bignell P.,
Moffat E.H.,
Martin R.,
Kakkar V.V.,
Cooper D.N.;
"A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.";
Blood Coagul. Fibrinolysis 4:345-347(1993).
|
[25]
|
VARIANTS PROC DEFICIENCY ARG-145; LEU-210; TRP-211; THR-243; LEU-321; MET-340 AND TYR-426.
PubMed=8292730 [NCBI, ExPASy, EBI, Israel, Japan]
Tsay W.,
Greengard J.S.,
Montgomery R.R.,
McPherson R.A.,
Fucci J.C.,
Koerper M.A.,
Coughlin J.,
Griffin J.H.;
"Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.";
Blood Coagul. Fibrinolysis 4:791-796(1993).
|
[26]
|
VARIANT PROC DEFICIENCY SER-423.
PubMed=8398832 [NCBI, ExPASy, EBI, Israel, Japan]
Marchetti G.,
Patracchini P.,
Gemmati D.,
Castaman G.,
Rodeghiero F.,
Wacey A.,
Cooper D.N.,
Tuddenham E.G.,
Bernardi F.;
"Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.";
Br. J. Haematol. 84:285-289(1993).
|
[27]
|
NUCLEOTIDE SEQUENCE OF 43-64, AND VARIANT PROC DEFICIENCY GLY-57.
PubMed=8477066 [NCBI, ExPASy, EBI, Israel, Japan]
Mimuro J.,
Muramatsu S.,
Kaneko M.,
Yoshitake S.,
Iijima K.,
Nakamura K.,
Sakata Y.,
Matsuda M.;
"An abnormal protein C (protein C Yonago) with an amino acid substitution of Gly for Arg-15 caused by a single base mutation of C to G in codon 57 (CGG-->GGG). Deteriorated calcium-dependent conformation of the gamma-carboxyglutamic acid domain relevant to a thrombotic tendency.";
Int. J. Hematol. 57:9-14(1993).
|
[28]
|
VARIANT PROC DEFICIENCY PRO-312.
PubMed=7919373 [NCBI, ExPASy, EBI, Israel, Japan]
Gandrille S.,
Jude B.,
Alhenc-Gelas M.,
Emmerich J.,
Aiach M.;
"First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion.";
Blood 84:2566-2570(1994).
|
[29]
|
VARIANT PROC DEFICIENCY 144-ASN-GLY-145 DELINS LYS.
PubMed=7841323 [NCBI, ExPASy, EBI, Israel, Japan]
Millar D.S.,
Allgrove J.,
Rodeck C.,
Kakkar V.V.,
Cooper D.N.;
"A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.";
Blood Coagul. Fibrinolysis 5:647-649(1994).
|
[30]
|
VARIANT PROC DEFICIENCY ALA-367.
PubMed=7841324 [NCBI, ExPASy, EBI, Israel, Japan]
Witt I.,
Beck S.,
Seydewitz H.H.,
Tasangil C.,
Schenck W.;
"A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.";
Blood Coagul. Fibrinolysis 5:651-653(1994).
|
[31]
|
VARIANTS PROC DEFICIENCY LEU-369; ARG-392; ASN-401 AND HIS-441.
PubMed=7865674 [NCBI, ExPASy, EBI, Israel, Japan]
Zheng Y.-Z.,
Sakata T.,
Matsusue T.,
Umeyama H.,
Kato H.,
Miyata T.;
"Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.";
Blood Coagul. Fibrinolysis 5:687-696(1994).
|
[32]
|
VARIANT PROC DEFICIENCY ASP-49.
PubMed=7974343 [NCBI, ExPASy, EBI, Israel, Japan]
Gaussem P.,
Gandrille S.,
Duchemin J.,
Emmerich J.,
Alhenc-Gelas M.,
Aillaud M.-F.,
Aiach M.;
"Influence of six mutations of the protein C gene on the Gla domain conformation and calcium affinity.";
Thromb. Haemost. 71:748-754(1994).
|
[33]
|
VARIANTS PROC DEFICIENCY PRO-178 AND HIS-328.
PubMed=7878626 [NCBI, ExPASy, EBI, Israel, Japan]
Long G.L.,
Tomczak J.A.,
Rainville I.R.,
Dreyfus M.,
Schramm W.,
Schwarz H.P.;
"Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations.";
Thromb. Haemost. 72:526-533(1994).
|
[34]
|
VARIANTS PROC DEFICIENCY CYS-89; PRO-220 AND THR-301.
PubMed=7605880 [NCBI, ExPASy, EBI, Israel, Japan]
Millar D.S.,
Bevan D.,
Chitolie A.,
Reynaud J.,
Chisholm M.,
Kakkar V.V.,
Cooper D.N.;
"Three novel mutations in the protein C (PROC) gene causing venous thrombosis.";
Blood Coagul. Fibrinolysis 6:138-140(1995).
|
[35]
|
VARIANTS PROC DEFICIENCY TRP-57; ARG-114; ARG-324; CYS-328 AND LEU-369, AND VARIANT THR-43.
PubMed=7792728 [NCBI, ExPASy, EBI, Israel, Japan]
Lind B.,
Schwartz M.,
Thorsen S.;
"Six different point mutations in seven Danish families with symptomatic protein C deficiency.";
Thromb. Haemost. 73:186-193(1995).
|
[36]
|
VARIANTS PROC DEFICIENCY CYS-32 AND ASN-436.
DOI=10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.3.CO;2-W; PubMed=8829639 [NCBI, ExPASy, EBI, Israel, Japan]
Ireland H.A.,
Boisclair M.D.,
Taylor J.,
Thompson E.,
Thein S.L.,
Girolami A.,
de Caterina M.,
Scopacasa F.,
de Stefano V.,
Leone G.,
Finazzi G.,
Cohen H.,
Lane D.A.;
"Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.";
Hum. Mutat. 7:176-179(1996).
|
[37]
|
VARIANTS PROC DEFICIENCY GLN-220 AND MET-340.
PubMed=9798967 [NCBI, ExPASy, EBI, Israel, Japan]
Couture P.,
Demers C.,
Morissette J.,
Delage R.,
Jomphe M.,
Couture L.,
Simard J.;
"Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.";
Thromb. Haemost. 80:551-556(1998).
|
|
ExPASy Home page
