Details for: SERPINC1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: hepatoblast (CL0005026)
Fold Change: 19.6601
Cell Significance Index: 330.6700 - Cell Name: liver dendritic cell (CL2000055)
Fold Change: 18.5883
Cell Significance Index: 49.0400 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 1.9605
Cell Significance Index: 33.0300 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 1.3892
Cell Significance Index: 20.5100 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 1.1597
Cell Significance Index: 230.1500 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 0.9047
Cell Significance Index: 5.2100 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.6205
Cell Significance Index: 15.0300 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.5366
Cell Significance Index: 11.6300 - Cell Name: hepatic pit cell (CL2000054)
Fold Change: 0.3938
Cell Significance Index: 1.0600 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.3811
Cell Significance Index: 3.7600 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.2737
Cell Significance Index: 44.5200 - Cell Name: intrahepatic cholangiocyte (CL0002538)
Fold Change: 0.2655
Cell Significance Index: 1.0000 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.2245
Cell Significance Index: 13.4800 - Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 0.2065
Cell Significance Index: 1.6300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.2035
Cell Significance Index: 4.3400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1530
Cell Significance Index: 15.1400 - Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
Fold Change: 0.0798
Cell Significance Index: 0.2800 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0614
Cell Significance Index: 11.6900 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.0441
Cell Significance Index: 4.8000 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 0.0300
Cell Significance Index: 0.2900 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.0185
Cell Significance Index: 0.4000 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0157
Cell Significance Index: 1.0900 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.0089
Cell Significance Index: 0.2300 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.0058
Cell Significance Index: 0.1200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.0055
Cell Significance Index: 3.8300 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0021
Cell Significance Index: 0.0600 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0024
Cell Significance Index: -4.5200 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0043
Cell Significance Index: -0.7800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0046
Cell Significance Index: -8.5000 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0059
Cell Significance Index: -9.0800 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0068
Cell Significance Index: -1.9600 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0068
Cell Significance Index: -0.3400 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0069
Cell Significance Index: -9.3600 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0070
Cell Significance Index: -4.4200 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0074
Cell Significance Index: -0.3200 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.0081
Cell Significance Index: -0.2000 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0082
Cell Significance Index: -4.4800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0091
Cell Significance Index: -6.7200 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0105
Cell Significance Index: -5.9000 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0106
Cell Significance Index: -3.8000 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0107
Cell Significance Index: -0.4400 - Cell Name: hepatocyte (CL0000182)
Fold Change: -0.0115
Cell Significance Index: -0.1600 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0121
Cell Significance Index: -5.5000 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0150
Cell Significance Index: -0.7800 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0166
Cell Significance Index: -3.3200 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.0173
Cell Significance Index: -0.2600 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0182
Cell Significance Index: -0.5100 - Cell Name: helper T cell (CL0000912)
Fold Change: -0.0183
Cell Significance Index: -0.2600 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0222
Cell Significance Index: -0.5600 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0224
Cell Significance Index: -0.6100 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0250
Cell Significance Index: -0.8000 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0258
Cell Significance Index: -0.5400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0260
Cell Significance Index: -3.7800 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0298
Cell Significance Index: -3.6600 - Cell Name: decidual cell (CL2000002)
Fold Change: -0.0318
Cell Significance Index: -0.5100 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0323
Cell Significance Index: -5.5200 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0323
Cell Significance Index: -0.6300 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.0341
Cell Significance Index: -0.9200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0345
Cell Significance Index: -4.7400 - Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: -0.0368
Cell Significance Index: -0.3600 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.0373
Cell Significance Index: -1.6900 - Cell Name: neural progenitor cell (CL0011020)
Fold Change: -0.0384
Cell Significance Index: -0.3800 - Cell Name: alpha-beta T cell (CL0000789)
Fold Change: -0.0387
Cell Significance Index: -0.3300 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0408
Cell Significance Index: -8.6000 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0417
Cell Significance Index: -4.8600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0419
Cell Significance Index: -4.8000 - Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: -0.0462
Cell Significance Index: -0.5100 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0463
Cell Significance Index: -4.7300 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: -0.0467
Cell Significance Index: -0.4700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0468
Cell Significance Index: -2.1800 - Cell Name: lung macrophage (CL1001603)
Fold Change: -0.0476
Cell Significance Index: -0.5200 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.0478
Cell Significance Index: -0.5200 - Cell Name: retinal astrocyte (CL4033015)
Fold Change: -0.0521
Cell Significance Index: -0.5100 - Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: -0.0532
Cell Significance Index: -0.5500 - Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: -0.0538
Cell Significance Index: -0.5200 - Cell Name: early lymphoid progenitor (CL0000936)
Fold Change: -0.0542
Cell Significance Index: -0.5500 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: -0.0542
Cell Significance Index: -0.4700 - Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: -0.0562
Cell Significance Index: -0.5200 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0574
Cell Significance Index: -4.5500 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.0578
Cell Significance Index: -3.6400 - Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
Fold Change: -0.0590
Cell Significance Index: -0.3100 - Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: -0.0599
Cell Significance Index: -0.4300 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0615
Cell Significance Index: -7.2500 - Cell Name: peptic cell (CL0000155)
Fold Change: -0.0619
Cell Significance Index: -0.5500 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: -0.0676
Cell Significance Index: -0.7700 - Cell Name: erythroblast (CL0000765)
Fold Change: -0.0704
Cell Significance Index: -0.8400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0708
Cell Significance Index: -4.3500 - Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: -0.0711
Cell Significance Index: -0.4400 - Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: -0.0744
Cell Significance Index: -0.7700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0753
Cell Significance Index: -5.0600 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0772
Cell Significance Index: -5.9300 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: -0.0783
Cell Significance Index: -0.5200 - Cell Name: immature NK T cell (CL0000914)
Fold Change: -0.0785
Cell Significance Index: -1.0100 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.0806
Cell Significance Index: -0.5500 - Cell Name: Kupffer cell (CL0000091)
Fold Change: -0.0841
Cell Significance Index: -0.7700 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0845
Cell Significance Index: -5.4500 - Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: -0.0881
Cell Significance Index: -1.0200 - Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: -0.0890
Cell Significance Index: -0.5800 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0891
Cell Significance Index: -4.6400 - Cell Name: chondroblast (CL0000058)
Fold Change: -0.0920
Cell Significance Index: -0.5400
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 290456255
Symbol: ANT3_HUMAN
Name: Antithrombin-III
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6298709
Title: Cloning and expression of the cDNA for human antithrombin III.
PubMed ID: 6298709
PubMed ID: 6572945
Title: Isolation and sequence characterization of a cDNA clone of human antithrombin III.
PubMed ID: 6572945
PubMed ID: 8476848
Title: Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.
PubMed ID: 8476848
DOI: 10.1021/bi00067a008
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 6305982
Title: Isolation of a cDNA clone for human antithrombin III.
PubMed ID: 6305982
PubMed ID: 3191114
Title: Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.
PubMed ID: 3191114
DOI: 10.1021/bi00416a052
PubMed ID: 7734359
Title: Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin.
PubMed ID: 7734359
PubMed ID: 7238875
Title: The site in human antithrombin for functional proteolytic cleavage by human thrombin.
PubMed ID: 7238875
PubMed ID: 6693405
Title: The heparin-binding site of antithrombin III. Identification of a critical tryptophan in the amino acid sequence.
PubMed ID: 6693405
PubMed ID: 15084671
PubMed ID: 14760718
Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.
PubMed ID: 14760718
PubMed ID: 15853774
Title: Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity.
PubMed ID: 15853774
DOI: 10.1042/bj20050299
PubMed ID: 16335952
Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
PubMed ID: 16335952
DOI: 10.1021/pr0502065
PubMed ID: 16263699
Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.
PubMed ID: 16263699
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 19838169
Title: Enrichment of glycopeptides for glycan structure and attachment site identification.
PubMed ID: 19838169
DOI: 10.1038/nmeth.1392
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26091039
Title: A single kinase generates the majority of the secreted phosphoproteome.
PubMed ID: 26091039
PubMed ID: 8087553
Title: Biological implications of a 3 A structure of dimeric antithrombin.
PubMed ID: 8087553
PubMed ID: 7656006
Title: The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions.
PubMed ID: 7656006
DOI: 10.1038/nsb0194-48
PubMed ID: 9067613
Title: The 2.6 A structure of antithrombin indicates a conformational change at the heparin binding site.
PubMed ID: 9067613
PubMed ID: 9761669
Title: Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin.
PubMed ID: 9761669
PubMed ID: 2126464
Title: Antithrombin III: structural and functional aspects.
PubMed ID: 2126464
PubMed ID: 8236149
Title: Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.
PubMed ID: 8236149
PubMed ID: 7749926
Title: What do dysfunctional serpins tell us about molecular mobility and disease?
PubMed ID: 7749926
DOI: 10.1038/nsb0295-96
PubMed ID: 8664906
Title: Molecular genetics of human antithrombin deficiency.
PubMed ID: 8664906
DOI: 10.1002/(sici)1098-1004(1996)7:1<7::aid-humu2>3.0.co;2-b
PubMed ID: 9031473
Title: Antithrombin mutation database: 2nd (1997) update.
PubMed ID: 9031473
PubMed ID: 6582486
Title: Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.
PubMed ID: 6582486
PubMed ID: 3080419
Title: Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.
PubMed ID: 3080419
PubMed ID: 3805013
Title: Antithrombin-III Denver, a reactive site variant.
PubMed ID: 3805013
PubMed ID: 3179438
Title: Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity.
PubMed ID: 3179438
PubMed ID: 3162733
Title: Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.
PubMed ID: 3162733
PubMed ID: 2781509
Title: Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.
PubMed ID: 2781509
PubMed ID: 2365065
Title: Antithrombin Rouen-IV 24 Arg-->Cys. The amino-terminal contribution to heparin binding.
PubMed ID: 2365065
PubMed ID: 1977621
Title: Antithrombin Dublin (-3 Val-->Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site.
PubMed ID: 1977621
PubMed ID: 2229057
Title: Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine.
PubMed ID: 2229057
PubMed ID: 2013320
Title: Site-directed mutagenesis of alanine-382 of human antithrombin III.
PubMed ID: 2013320
PubMed ID: 1906811
Title: Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins.
PubMed ID: 1906811
PubMed ID: 1555650
Title: Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.
PubMed ID: 1555650
PubMed ID: 1547341
Title: Antithrombin-III Stockholm: a codon 392 (Gly-->Asp) mutation with normal heparin binding and impaired serine protease reactivity.
PubMed ID: 1547341
PubMed ID: 8443391
Title: Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.
PubMed ID: 8443391
PubMed ID: 8486379
Title: A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection.
PubMed ID: 8486379
PubMed ID: 7981186
Title: Three novel mutations of antithrombin inducing high-molecular-mass compounds.
PubMed ID: 7981186
PubMed ID: 7959685
Title: Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.
PubMed ID: 7959685
DOI: 10.1007/bf00211016
PubMed ID: 8274732
Title: Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.
PubMed ID: 8274732
PubMed ID: 7994035
Title: Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.
PubMed ID: 7994035
PubMed ID: 7989582
Title: Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp).
PubMed ID: 7989582
DOI: 10.1172/jci117589
PubMed ID: 7878627
Title: Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6.
PubMed ID: 7878627
PubMed ID: 7832187
Title: Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin.
PubMed ID: 7832187
PubMed ID: 9157604
Title: Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.
PubMed ID: 9157604
PubMed ID: 9845533
Title: Impaired cotranslational processing as a mechanism for type I antithrombin deficiency.
PubMed ID: 9845533
PubMed ID: 9759613
Title: The molecular basis of antithrombin deficiency in Belgian and Dutch families.
PubMed ID: 9759613
PubMed ID: 10361121
Title: Familial overexpression of beta-antithrombin caused by an Asn135-to-Thr substitution.
PubMed ID: 10361121
PubMed ID: 10997988
Title: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene.
PubMed ID: 10997988
PubMed ID: 11794707
Title: Two novel gene mutations in type I antithrombin deficiency.
PubMed ID: 11794707
DOI: 10.1007/bf02982095
PubMed ID: 11713457
Title: Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.
PubMed ID: 11713457
PubMed ID: 12353073
Title: Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.
PubMed ID: 12353073
DOI: 10.1267/THRO88030436
PubMed ID: 12595305
Title: Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.
PubMed ID: 12595305
PubMed ID: 12894857
Title: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis.
PubMed ID: 12894857
DOI: 10.1007/bf02983246
PubMed ID: 15164384
Title: Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.
PubMed ID: 15164384
DOI: 10.1002/ajh.20067
PubMed ID: 15140129
Title: Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.
PubMed ID: 15140129
PubMed ID: 16908819
Title: Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.
PubMed ID: 16908819
PubMed ID: 22758787
Title: Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance.
PubMed ID: 22758787
PubMed ID: 23910795
Title: Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
PubMed ID: 23910795
DOI: 10.1111/jth.12364
PubMed ID: 30046692
Sequence Information:
- Length: 464
- Mass: 52602
- Checksum: 9A4E324F00683D9D
- Sequence:
MYSNVIGTVT SGKRKVYLLS LLLIGFWDCV TCHGSPVDIC TAKPRDIPMN PMCIYRSPEK KATEDEGSEQ KIPEATNRRV WELSKANSRF ATTFYQHLAD SKNDNDNIFL SPLSISTAFA MTKLGACNDT LQQLMEVFKF DTISEKTSDQ IHFFFAKLNC RLYRKANKSS KLVSANRLFG DKSLTFNETY QDISELVYGA KLQPLDFKEN AEQSRAAINK WVSNKTEGRI TDVIPSEAIN ELTVLVLVNT IYFKGLWKSK FSPENTRKEL FYKADGESCS ASMMYQEGKF RYRRVAEGTQ VLELPFKGDD ITMVLILPKP EKSLAKVEKE LTPEVLQEWL DELEEMMLVV HMPRFRIEDG FSLKEQLQDM GLVDLFSPEK SKLPGIVAEG RDDLYVSDAF HKAFLEVNEE GSEAAASTAV VIAGRSLNPN RVTFKANRPF LVFIREVPLN TIIFMGRVAN PCVK
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.