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F8 / FVIII / Factor VIII Antibodies

coagulation factor VIII, procoagulant component

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder.

Gene Name: coagulation factor VIII, procoagulant component
Synonyms: F8 Antibody, AHF Antibody, Antihemophilic factor Antibody, Coagulation factor VIIIc Antibody, Coagulation factor VIII Antibody, DXS1253E Antibody, Factor VIII F8B Antibody, FVIII Antibody, HEMA Antibody, F8B Antibody, Factor VIII Antibody, Procoagulant component Antibody, F8C Antibody
Target Sequences: NM_000132 NP_000123.1 P00451
 F8 / FVIII / Factor VIII Feature Table
Featured Image

Featured F8 / FVIII / Factor VIII Antibody

LS-B2979 is a sheep polyclonal antibody that LifeSpan has tested extensively in immunohistochemistry (IHC) and is an excellent antibody for use in formalin-fixed paraffin embedded tissues. Multiple tissues were immunolabeled and the results were interpreted by a LifeSpan pathologist. This image shows an example of staining in formalin-fixed paraffin embedded tissue. Learn more about our IHC Validation procedure. All LSBio antibodies are 100% guaranteed.


F8 / FVIII / Factor VIII Antibodies (53)

Target Reactivity Applications Host Clonality Clone Format Epitope Publications
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human IHC-P, ELISA, GS No
Anti-F8 / FVIII / Factor VIII Antibody IHC-plus™ LS-B2979
IHC Image
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
IHC - Paraffin, ELISA, Gel shift
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human IHC-P No
Anti-F8 / FVIII / Factor VIII Antibody IHC-plus™ LS-B3124
IHC Image
IHC Image
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
IHC - Paraffin
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human IHC-P, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody IHC-plus™ LS-B9164
IHC Image
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
IHC - Paraffin, ELISA
Unconjugated
F8 / FVIII / Factor VIII Rabbit Polyclonal Unconjugated Human, Mouse IHC, WB Ser2194 No
Anti-F8 / FVIII / Factor VIII Antibody (Ser2194) LS-C176016
WB Image
Rabbit Polyclonal to Human F8 / FVIII / Factor VIII
Human, Mouse
IHC, Western blot
Unconjugated
F8 / FVIII / Factor VIII Rabbit Polyclonal Unconjugated Human WB C-Terminus No
Anti-F8 / FVIII / Factor VIII Antibody (C-Terminus) LS-C135701
WB Image
Rabbit Polyclonal to Human F8 / FVIII / Factor VIII
Human
Western blot
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal MH104 Unconjugated Human IHC-Fr, WB, ELISA Intact 83kD light chain No
Anti-F8 / FVIII / Factor VIII Antibody (Intact 83kD light chain) [clone MH104] LS-C23376
Mouse Monoclonal [clone MH104] (IgG2a) to Human F8 / FVIII / Factor VIII
Human
IHC - Frozen, Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 2A5 Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone 2A5] LS-C41885
Mouse Monoclonal [clone 2A5] (IgG2a) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal HRP Conjugated Human ELISA, IE No
Anti-F8 / FVIII / Factor VIII Antibody (HRP) LS-C23380
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
ELISA, Immunoelectrophoresis
HRP Conjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/5 Unconjugated Human WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/5] LS-C188518
Mouse Monoclonal [clone RFF-VIIIC/5] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 5E9B2 Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone 5E9B2] LS-C109095
WB Image
Mouse Monoclonal [clone 5E9B2] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 8A Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody [clone 8A] LS-C85106
Mouse Monoclonal [clone 8A] to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C36304
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human WB No
Anti-F8 / FVIII / Factor VIII Antibody LS-C65826
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 24–2-C7 Unconjugated Human IHC-P, IHC-Fr, IF, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone 24–2-C7] LS-C23372
Mouse Monoclonal [clone 24–2-C7] (IgG1) to Human F8 / FVIII / Factor VIII
Human
IHC - Paraffin, IHC - Frozen, Immunofluorescence, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal MH104 Unconjugated Human IHC, WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone MH104] LS-C193433
Mouse Monoclonal [clone MH104] (IgG2a) to Human F8 / FVIII / Factor VIII
Human
IHC, Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal MH104 Unconjugated Human IHC, WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone MH104] LS-C193414
Mouse Monoclonal [clone MH104] (IgG2a) to Human F8 / FVIII / Factor VIII
Human
IHC, Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human IHC, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C85814
Sheep Polyclonal to Human F8 / FVIII / Factor VIII
Human
IHC, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human IHC-P No
Anti-F8 / FVIII / Factor VIII Antibody LS-C190791
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
IHC - Paraffin
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/8 Unconjugated Human, Pig WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/8] LS-C188516
ELISA Image
Mouse Monoclonal [clone RFF-VIIIC/8] (IgG1) to Human F8 / FVIII / Factor VIII
Human, Pig
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/10 Unconjugated Human WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/10] LS-C188520
WB Image
Mouse Monoclonal [clone RFF-VIIIC/10] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Rabbit Polyclonal Unconjugated Human, Mouse WB, ELISA aa2161-2210 No
Anti-F8 / FVIII / Factor VIII Antibody (aa2161-2210) LS-C198944
WB Image
Rabbit Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human, Mouse
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 1E8 Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone 1E8] LS-C197178
ELISA Image
Mouse Monoclonal [clone 1E8] (IgG2b,k) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/10 Unconjugated Human WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/10] LS-C188521
Mouse Monoclonal [clone RFF-VIIIC/10] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/5 Unconjugated Human WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/5] LS-C188519
Mouse Monoclonal [clone RFF-VIIIC/5] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/8 Unconjugated Human, Pig WB, ELISA, RIA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/8] LS-C188517
Mouse Monoclonal [clone RFF-VIIIC/8] (IgG1) to Human F8 / FVIII / Factor VIII
Human, Pig
Western blot, ELISA, Radioimmunoassay
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/5 Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/5] LS-C45468
Mouse Monoclonal [clone RFF-VIIIC/5] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal RFF-VIIIC/8 AP Conjugated Human, Pig WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone RFF-VIIIC/8] (AP) LS-C45461
Mouse Monoclonal [clone RFF-VIIIC/8] (IgG1) to Human F8 / FVIII / Factor VIII
Human, Pig
Western blot, ELISA
AP Conjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C150916
Sheep Polyclonal (IgG)
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal HRP Conjugated Human ELISA, IE No
Anti-F8 / FVIII / Factor VIII Antibody (HRP) LS-C86644
Sheep Polyclonal to Human F8 / FVIII / Factor VIII
Human
ELISA, Immunoelectrophoresis
HRP Conjugated
F8 / FVIII / Factor VIII Rat Monoclonal 9035 Unconjugated Mouse WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody [clone 9035] LS-C150888
Rat Monoclonal [clone 9035]
Mouse
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C82958
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C82957
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C82956
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 8EB Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody [clone 8EB] LS-C85105
Mouse Monoclonal [clone 8EB] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C84454
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C84451
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal 10101 Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody [clone 10101] LS-C85107
Mouse Monoclonal [clone 10101] (IgG1) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal HRP Conjugated Dog No
Anti-F8 / FVIII / Factor VIII Antibody (HRP) LS-C193801
Sheep Polyclonal (IgG) to Dog F8 / FVIII / Factor VIII
Dog
HRP Conjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Dog No
Anti-F8 / FVIII / Factor VIII Antibody LS-C193668
Sheep Polyclonal (IgG) to Dog F8 / FVIII / Factor VIII
Dog
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C193640
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody LS-C193905
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Biotin Conjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody (Biotin) LS-C193840
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
Biotin Conjugated
F8 / FVIII / Factor VIII Sheep Polyclonal FITC Conjugated Human No
Anti-F8 / FVIII / Factor VIII Antibody (FITC) LS-C193839
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
FITC Conjugated
F8 / FVIII / Factor VIII Rat Monoclonal Unconjugated Mouse WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C36303
Rat Monoclonal (IgG1) to Mouse F8 / FVIII / Factor VIII
Mouse
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C128924
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C36306
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Sheep Polyclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23371
Sheep Polyclonal (IgG) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human WB, ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23378
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
Western blot, ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23367
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23369
Mouse Monoclonal (IgG1) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23374
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C128925
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated
F8 / FVIII / Factor VIII Mouse Monoclonal Unconjugated Human ELISA No
Anti-F8 / FVIII / Factor VIII Antibody LS-C23377
Mouse Monoclonal (IgG2a) to Human F8 / FVIII / Factor VIII
Human
ELISA
Unconjugated

F8 / FVIII / Factor VIII Feature Table


Feature Type Location Details
Disease 1 - 2351 Defects in F8 are the cause of hemophilia A (HEMA) [MIM:306700]. HEMA is a common recessive X-linked coagulation disorder. The frequency of hemophilia A is 1-2 in 10,000 male births in all ethnic groups. About 50% of patients have severe hemophilia A with F8C activity less than 1% of normal; they have frequent spontaneous bleeding into joints, muscles and internal organs. Moderately severe hemophilia A occurs in about 10% of patients; F8C activity is 2-5% of normal, and there is bleeding after minor trauma. Mild hemophilia A, which occurs in 30-40% of patients, is associated with F8C activity of 5-30% and bleeding occurs only after significant trauma or surgery. Of particular interest for the understanding of the function of F8C is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8C in their plasma (at least 30
domain 1 - 2351 Domain F5/8 type C 2 is responsible for phospholipid- binding and essential for factor VIII activity.
Function 1 - 2351 Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa.
mass spectrometry 1 - 2351 Mass=1367.6; Method=Electrospray; Range=356- 378; Note=Nonsulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=1407.4; Method=Electrospray; Range=356- 378; Note=Sulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=2000.7; Method=Electrospray; Range=1691- 1708; Note=Nonsulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=2080.7; Method=Electrospray; Range=1691- 1708; Note=Sulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=2460.9; Method=Electrospray; Range=1672- 1692; Note=Nonsulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=2540.7; Method=Electrospray; Range=1672- 1692; Note=Sulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=2975.4; Method=Electrospray; Range=400- 424; Note=Nonsulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=3024; Method=Electrospray; Range=727-752; Note=Nonsulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=3104; Method=Electrospray; Range=727-752; Note=Monosulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=3183.5; Method=Electrospray; Range=727- 752; Note=Disulfated; Source=PubMed:10368977;
mass spectrometry 1 - 2351 Mass=3262.5; Method=Electrospray; Range=727- 752; Note=Trisulfated; Source=PubMed:10368977;
Pharmaceutical 1 - 2351 Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to treat hemophilia A.
ptm 1 - 2351 Sulfation on Tyr-1699 is essential for binding vWF.
Similarity 1 - 2351 Belongs to the multicopper oxidase family.
Similarity 1 - 2351 Contains 2 F5/8 type C domains.
Similarity 1 - 2351 Contains 3 F5/8 type A domains.
Similarity 1 - 2351 Contains 6 plastocyanin-like domains.
Subcellular Location 1 - 2351 Secreted, extracellular space.
Subunit 1 - 2351 Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation.
web resource 1 - 2351 Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F8";
web resource 1 - 2351 Name=HAMSters; Note=Factor VIII mutation db; URL="http://hadb.org.uk/WebPages/Main/main.htm";
web resource 1 - 2351 Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f8/";
web resource 1 - 2351 Name=Wikipedia; Note=Factor VIII entry; URL="http://en.wikipedia.org/wiki/Factor_VIII";
arrayexpress 1 - 2351 P00451
bgee 1 - 2351 P00451
cleanex 1 - 2351 HS_F8
ctd 1 - 2351 2157
dip 1 - 2351 DIP-29774N
doi 1 - 2351 10
drugbank 1 - 2351 DB00025
drugbank 1 - 2351 DB00055
drugbank 1 - 2351 DB00100
embl 1 - 2351 AC109993
embl 1 - 2351 AY769950
embl 1 - 2351 BX470111
embl 1 - 2351 BX842559
embl 1 - 2351 BX842564
embl 1 - 2351 BX890586
embl 1 - 2351 K01740
embl 1 - 2351 M14113
embl 1 - 2351 M88628
embl 1 - 2351 M88629
embl 1 - 2351 M88630
embl 1 - 2351 M88631
embl 1 - 2351 M88632
embl 1 - 2351 M88633
embl 1 - 2351 M88634
embl 1 - 2351 M88635
embl 1 - 2351 M88636
embl 1 - 2351 M88638
embl 1 - 2351 M88639
embl 1 - 2351 M88640
embl 1 - 2351 M88641
embl 1 - 2351 M88642
embl 1 - 2351 M88643
embl 1 - 2351 M88644
embl 1 - 2351 M88645
embl 1 - 2351 M88646
embl 1 - 2351 M88647
embl 1 - 2351 M88648
embl 1 - 2351 U80228
embl 1 - 2351 X01179
ensembl 1 - 2351 ENST00000360256
gene3d 1 - 2351 G3DSA:2.60.40.420
genecards 1 - 2351 GC0XM154064
geneid 1 - 2351 2157
genevestigator 1 - 2351 P00451
germonline 1 - 2351 ENSG00000185010
glycosuitedb 1 - 2351 P00451
go 1 - 2351 GO:0005507
go 1 - 2351 GO:0005515
go 1 - 2351 GO:0005615
go 1 - 2351 GO:0005886
go 1 - 2351 GO:0006953
go 1 - 2351 GO:0007155
go 1 - 2351 GO:0007596
go 1 - 2351 GO:0016491
go 1 - 2351 GO:0031093
go 1 - 2351 GO:0055114
h-invdb 1 - 2351 HIX0056228
hgnc 1 - 2351 HGNC:3546
hogenom 1 - 2351 HBG127514
hovergen 1 - 2351 HBG106657
hpa 1 - 2351 CAB018777
inparanoid 1 - 2351 P00451
intact 1 - 2351 P00451
interpro 1 - 2351 IPR000421
interpro 1 - 2351 IPR001117
interpro 1 - 2351 IPR002355
interpro 1 - 2351 IPR008972
interpro 1 - 2351 IPR008979
interpro 1 - 2351 IPR011706
interpro 1 - 2351 IPR011707
interpro 1 - 2351 IPR014707
ipi 1 - 2351 IPI00017603
kegg 1 - 2351 hsa:2157
medline 1 - 2351 20081067
medline 1 - 2351 21194898
medline 1 - 2351 22188717
medline 1 - 2351 22811549
medline 1 - 2351 85061548
medline 1 - 2351 85061550
medline 1 - 2351 86081164
medline 1 - 2351 86235434
medline 1 - 2351 88096539
medline 1 - 2351 88191889
medline 1 - 2351 88220354
medline 1 - 2351 89088506
medline 1 - 2351 89197216
medline 1 - 2351 89264602
medline 1 - 2351 89274393
medline 1 - 2351 90001543
medline 1 - 2351 90057680
medline 1 - 2351 90105723
medline 1 - 2351 90123183
medline 1 - 2351 90152691
medline 1 - 2351 90169988
medline 1 - 2351 90192753
medline 1 - 2351 90329422
medline 1 - 2351 91093266
medline 1 - 2351 91221499
medline 1 - 2351 91228147
medline 1 - 2351 91334474
medline 1 - 2351 91348684
medline 1 - 2351 92020842
medline 1 - 2351 92207952
medline 1 - 2351 92250024
medline 1 - 2351 92347913
medline 1 - 2351 93194188
medline 1 - 2351 93244837
medline 1 - 2351 93250816
medline 1 - 2351 93250855
medline 1 - 2351 93265012
medline 1 - 2351 93310754
medline 1 - 2351 95200924
medline 1 - 2351 95245332
medline 1 - 2351 95338127
medline 1 - 2351 98111374
medline 1 - 2351 98112483
medline 1 - 2351 98264603
medline 1 - 2351 99006891
medline 1 - 2351 99045373
medline 1 - 2351 99229539
medline 1 - 2351 99335269
mim 1 - 2351 134500
mim 1 - 2351 306700
mint 1 - 2351 MINT-202317
nextbio 1 - 2351 8713
oma 1 - 2351 EDGPTKS
orphanet 1 - 2351 169802
orphanet 1 - 2351 169805
orphanet 1 - 2351 169808
orphanet 1 - 2351 177926
orphanet 1 - 2351 448
orphanet 1 - 2351 98878
orthodb 1 - 2351 EOG9JQ6GW
panther 1 - 2351 PTHR10127:SF50
pdb 1 - 2351 1CFG
pdb 1 - 2351 1D7P
pdb 1 - 2351 1FAC
pdb 1 - 2351 1IQD
pdb 1 - 2351 2R7E
pdb 1 - 2351 3CDZ
pdb 1 - 2351 3HNB
pdb 1 - 2351 3HNY
pdb 1 - 2351 3HOB
pdbsum 1 - 2351 1CFG
pdbsum 1 - 2351 1D7P
pdbsum 1 - 2351 1FAC
pdbsum 1 - 2351 1IQD
pdbsum 1 - 2351 2R7E
pdbsum 1 - 2351 3CDZ
pdbsum 1 - 2351 3HNB
pdbsum 1 - 2351 3HNY
pdbsum 1 - 2351 3HOB
pfam 1 - 2351 PF00394
pfam 1 - 2351 PF00754
pfam 1 - 2351 PF07731
pfam 1 - 2351 PF07732
pharmgkb 1 - 2351 PA134914298
pir 1 - 2351 I54318
pride 1 - 2351 P00451
prosite 1 - 2351 PS00079
prosite 1 - 2351 PS01285
prosite 1 - 2351 PS01286
prosite 1 - 2351 PS50022
proteinmodelportal 1 - 2351 P00451
pubmed 1 - 2351 10215414
pubmed 1 - 2351 10338101
pubmed 1 - 2351 10368977
pubmed 1 - 2351 10404764
pubmed 1 - 2351 10408784
pubmed 1 - 2351 10554831
pubmed 1 - 2351 10612839
pubmed 1 - 2351 10691849
pubmed 1 - 2351 10800171
pubmed 1 - 2351 10886198
pubmed 1 - 2351 10896236
pubmed 1 - 2351 10910910
pubmed 1 - 2351 10910913
pubmed 1 - 2351 11298607
pubmed 1 - 2351 11341489
pubmed 1 - 2351 11410838
pubmed 1 - 2351 11442643
pubmed 1 - 2351 11442647
pubmed 1 - 2351 11554935
pubmed 1 - 2351 11748850
pubmed 1 - 2351 11857744
pubmed 1 - 2351 11858487
pubmed 1 - 2351 12195713
pubmed 1 - 2351 12199686
pubmed 1 - 2351 12203998
pubmed 1 - 2351 12325022
pubmed 1 - 2351 12351418
pubmed 1 - 2351 12406074
pubmed 1 - 2351 12614369
pubmed 1 - 2351 12871415
pubmed 1 - 2351 12930394
pubmed 1 - 2351 1301194
pubmed 1 - 2351 1301932
pubmed 1 - 2351 1301960
pubmed 1 - 2351 1303178
pubmed 1 - 2351 1349567
pubmed 1 - 2351 1356412
pubmed 1 - 2351 1554716
pubmed 1 - 2351 15682412
pubmed 1 - 2351 15772651
pubmed 1 - 2351 15810915
pubmed 1 - 2351 16335952
pubmed 1 - 2351 1639429
pubmed 1 - 2351 16805874
pubmed 1 - 2351 1851341
pubmed 1 - 2351 1898735
pubmed 1 - 2351 1902642
pubmed 1 - 2351 1908096
pubmed 1 - 2351 1908817
pubmed 1 - 2351 1924291
pubmed 1 - 2351 1973901
pubmed 1 - 2351 2104766
pubmed 1 - 2351 2105106
pubmed 1 - 2351 2105906
pubmed 1 - 2351 2106480
pubmed 1 - 2351 2107542
pubmed 1 - 2351 2491949
pubmed 1 - 2351 2495245
pubmed 1 - 2351 2498882
pubmed 1 - 2351 2499363
pubmed 1 - 2351 2506948
pubmed 1 - 2351 2510835
pubmed 1 - 2351 2833855
pubmed 1 - 2351 2835904
pubmed 1 - 2351 3012775
pubmed 1 - 2351 3122181
pubmed 1 - 2351 3935400
pubmed 1 - 2351 6438526
pubmed 1 - 2351 6438528
pubmed 1 - 2351 7579394
pubmed 1 - 2351 7613471
pubmed 1 - 2351 7728145
pubmed 1 - 2351 7759074
pubmed 1 - 2351 7794769
pubmed 1 - 2351 7893714
pubmed 1 - 2351 8322269
pubmed 1 - 2351 8449505
pubmed 1 - 2351 8639447
pubmed 1 - 2351 8644728
pubmed 1 - 2351 8759905
pubmed 1 - 2351 9029040
pubmed 1 - 2351 9218428
pubmed 1 - 2351 9326186
pubmed 1 - 2351 9341862
pubmed 1 - 2351 9450898
pubmed 1 - 2351 9452104
pubmed 1 - 2351 9569180
pubmed 1 - 2351 9569189
pubmed 1 - 2351 9603440
pubmed 1 - 2351 9792405
pubmed 1 - 2351 9829908
pubmed 1 - 2351 9886318
reactome 1 - 2351 REACT_604
refseq 1 - 2351 NP_000123.1
smart 1 - 2351 SM00231
string 1 - 2351 P00451
supfam 1 - 2351 SSF49503
supfam 1 - 2351 SSF49785
ucsc 1 - 2351 uc004fmt.1
unigene 1 - 2351 Hs.654450
joined; genomic_dna 1 - 2351 AAA52420.1
joined; genomic_dna 1 - 2351 CAI41660.1
joined; genomic_dna 1 - 2351 CAI41666.1
joined; genomic_dna 1 - 2351 CAI41672.1
joined; genomic_dna 1 - 2351 CAI43241.1
carbohyd 60 - 60 N-linked (GlcNAc...) (Potential)
carbohyd 258 - 258 N-linked (GlcNAc...) (Potential)
carbohyd 601 - 601 N-linked (GlcNAc...)
carbohyd 776 - 776 N-linked (GlcNAc...) (Potential)
carbohyd 803 - 803 N-linked (GlcNAc...) (Potential)
carbohyd 847 - 847 N-linked (GlcNAc...) (Potential)
carbohyd 919 - 919 N-linked (GlcNAc...) (Potential)
carbohyd 962 - 962 N-linked (GlcNAc...) (Potential)
carbohyd 982 - 982 N-linked (GlcNAc...) (Potential)
carbohyd 1020 - 1020 N-linked (GlcNAc...) (Potential)
carbohyd 1024 - 1024 N-linked (GlcNAc...) (Potential)
carbohyd 1074 - 1074 N-linked (GlcNAc...) (Potential)
carbohyd 1085 - 1085 N-linked (GlcNAc...) (Potential)
carbohyd 1204 - 1204 N-linked (GlcNAc...) (Potential)
carbohyd 1274 - 1274 N-linked (GlcNAc...) (Potential)
carbohyd 1278 - 1278 N-linked (GlcNAc...) (Potential)
carbohyd 1301 - 1301 N-linked (GlcNAc...) (Potential)
carbohyd 1319 - 1319 N-linked (GlcNAc...) (Potential)
carbohyd 1431 - 1431 N-linked (GlcNAc...) (Potential)
carbohyd 1461 - 1461 N-linked (GlcNAc...) (Potential)
carbohyd 1829 - 1829 N-linked (GlcNAc...) (Potential)
carbohyd 2137 - 2137 N-linked (GlcNAc...) (Potential)
chain 20 - 759 Factor VIIIa heavy chain, 92 kDa isoform /FTId=PRO_0000002969.
chain 20 - 1332 Factor VIIIa heavy chain, 200 kDa isoform. /FTId=PRO_0000002968.
chain 20 - 2351 Coagulation factor VIII /FTId=PRO_0000002967.
chain 760 - 1332 Factor VIII B chain /FTId=PRO_0000002970.
chain 1668 - 2351 Factor VIIIa light chain /FTId=PRO_0000002971.
conflict 768 - 768 P -> R (in Ref. 2; CAA25619)
conflict 1922 - 1922 C -> S (in Ref. 4; AAA52420)
disulfid 2193 - 2345 By similarity
domain 20 - 198 Plastocyanin-like 1
domain 20 - 348 F5/8 type A 1
domain 206 - 348 Plastocyanin-like 2
domain 399 - 573 Plastocyanin-like 3
domain 399 - 730 F5/8 type A 2
domain 583 - 730 Plastocyanin-like 4
domain 1713 - 1877 Plastocyanin-like 5
domain 1713 - 2040 F5/8 type A 3
domain 1887 - 2040 Plastocyanin-like 6
domain 2040 - 2188 F5/8 type C 1
domain 2193 - 2345 F5/8 type C 2
Modification 365 - 365 Sulfotyrosine
Modification 737 - 737 Sulfotyrosine
Modification 738 - 738 Sulfotyrosine
Modification 742 - 742 Sulfotyrosine
Modification 1683 - 1683 Sulfotyrosine
Modification 1699 - 1699 Sulfotyrosine
region 760 - 1667 B
site 391 - 392 Cleavage; by thrombin
site 759 - 760 Cleavage; by thrombin
site 1332 - 1333 Cleavage (activation)
site 1667 - 1668 Cleavage (activation)
site 1708 - 1709 Cleavage; by thrombin
variant 19 - 19 S -> R (in HEMA) /FTId=VAR_028447.
variant 22 - 22 R -> T (in HEMA; severe) /FTId=VAR_028448.
variant 24 - 24 Y -> C (in HEMA) /FTId=VAR_028449.
variant 25 - 25 Y -> C (in HEMA; mild) /FTId=VAR_028450.
variant 26 - 26 L -> P (in HEMA; severe) /FTId=VAR_028451.
variant 26 - 26 L -> R (in HEMA; severe) /FTId=VAR_001045.
variant 30 - 30 E -> V (in HEMA; mild) /FTId=VAR_001046.
variant 33 - 33 W -> G (in HEMA; moderate) /FTId=VAR_028452.
variant 35 - 35 Y -> C (in HEMA; mild/severe) /FTId=VAR_028453.
variant 35 - 35 Y -> H (in HEMA; severe) /FTId=VAR_028454.
variant 41 - 41 G -> C (in HEMA; severe/moderate) /FTId=VAR_001047.
variant 48 - 48 R -> C (in HEMA; severe) /FTId=VAR_001048.
variant 48 - 48 R -> K (in HEMA) /FTId=VAR_028455.
variant 67 - 67 K -> E (in HEMA; severe) /FTId=VAR_028456.
variant 67 - 67 K -> N (in HEMA) /FTId=VAR_028457.
variant 69 - 69 L -> P (in HEMA; moderate-severe) /FTId=VAR_028458.
variant 72 - 72 E -> K (in HEMA; moderate) /FTId=VAR_017330.
variant 75 - 75 D -> E (in HEMA; moderate) /FTId=VAR_028459.
variant 75 - 75 D -> V (in dbSNP:rs1800288) /FTId=VAR_001049.
variant 75 - 75 D -> Y (in HEMA; moderate-severe) /FTId=VAR_028460.
variant 84 - 85 Missing (in HEMA; severe) /FTId=VAR_028461.
variant 85 - 85 Missing (in HEMA; moderate) /FTId=VAR_028462.
variant 89 - 89 G -> D (in HEMA; severe) /FTId=VAR_001050.
variant 89 - 89 G -> V (in HEMA; mild) /FTId=VAR_001051.
variant 92 - 92 G -> A (in HEMA) /FTId=VAR_028463.
variant 92 - 92 G -> V (in HEMA; mild; dbSNP:rs28935204) /FTId=VAR_028464.
variant 97 - 97 A -> P (in HEMA) /FTId=VAR_017331.
variant 98 - 98 E -> K (in HEMA; severe) /FTId=VAR_028465.
variant 99 - 99 V -> D (in HEMA; severe; dbSNP:rs28935205). /FTId=VAR_001052.
variant 101 - 101 D -> G (in HEMA; severe) /FTId=VAR_028466.
variant 101 - 101 D -> H (in HEMA; severe sporadic) /FTId=VAR_028467.
variant 101 - 101 D -> V (in HEMA) /FTId=VAR_028468.
variant 104 - 104 V -> D (in HEMA; mild; dbSNP:rs28935206) /FTId=VAR_001053.
variant 108 - 108 K -> T (in HEMA; mild; dbSNP:rs28935207) /FTId=VAR_001054.
variant 110 - 110 M -> V (in HEMA; moderate; dbSNP:rs28936083). /FTId=VAR_001055.
variant 111 - 111 A -> T (in HEMA; severe) /FTId=VAR_028469.
variant 111 - 111 A -> V (in HEMA; moderate) /FTId=VAR_028470.
variant 113 - 113 H -> R (in HEMA; mild) /FTId=VAR_028471.
variant 113 - 113 H -> Y (in HEMA) /FTId=VAR_028472.
variant 117 - 117 L -> F (in HEMA; mild) /FTId=VAR_028473.
variant 117 - 117 L -> R (in HEMA; severe; dbSNP:rs28935208). /FTId=VAR_001056.
variant 121 - 121 G -> S (in HEMA) /FTId=VAR_028474.
variant 129 - 129 E -> V (in HEMA; severe) /FTId=VAR_001057.
variant 130 - 130 G -> R (in HEMA; severe) /FTId=VAR_001058.
variant 132 - 132 E -> D (in HEMA; severe; dbSNP:rs28935209). /FTId=VAR_001059.
variant 133 - 133 Y -> C (in HEMA; mild; dbSNP:rs28935210) /FTId=VAR_001060.
variant 135 - 135 D -> G (in HEMA; severe; dbSNP:rs28935211). /FTId=VAR_001061.
variant 135 - 135 D -> Y (in HEMA; severe sporadic) /FTId=VAR_028475.
variant 137 - 137 T -> A (in HEMA; severe) /FTId=VAR_028476.
variant 137 - 137 T -> I (in HEMA; moderate) /FTId=VAR_001062.
variant 138 - 138 S -> R (in HEMA; mild) /FTId=VAR_028477.
variant 141 - 141 E -> K (in HEMA; severe familial) /FTId=VAR_028478.
variant 145 - 145 D -> H (in HEMA; moderate) /FTId=VAR_028479.
variant 147 - 147 V -> D (in HEMA; severe) /FTId=VAR_028480.
variant 155 - 155 Y -> H (in HEMA; moderate) /FTId=VAR_017332.
variant 159 - 159 V -> A (in HEMA; moderate) /FTId=VAR_028481.
variant 163 - 163 N -> K (in HEMA; moderate) /FTId=VAR_028482.
variant 164 - 164 G -> D (in HEMA; moderate) /FTId=VAR_028483.
variant 164 - 164 G -> V (in HEMA; mild; dbSNP:rs28935212) /FTId=VAR_001063.
variant 165 - 165 P -> S (in HEMA; severe; dbSNP:rs28935213). /FTId=VAR_001064.
variant 172 - 172 C -> W (in HEMA) /FTId=VAR_028484.
variant 176 - 176 S -> P (in HEMA) /FTId=VAR_028485.
variant 179 - 179 S -> P (in HEMA; moderate) /FTId=VAR_028486.
variant 181 - 181 V -> E (in HEMA; mild) /FTId=VAR_017333.
variant 181 - 181 V -> M (in HEMA; mild/moderate) /FTId=VAR_001065.
variant 185 - 185 K -> T (in HEMA; mild) /FTId=VAR_001066.
variant 186 - 186 D -> G (in HEMA; mild) /FTId=VAR_028487.
variant 186 - 186 D -> Y (in HEMA; severe) /FTId=VAR_028488.
variant 189 - 189 S -> L (in HEMA; moderate) /FTId=VAR_001067.
variant 193 - 193 G -> R (in HEMA; severe familial) /FTId=VAR_028489.
variant 198 - 198 C -> G (in HEMA; severe) /FTId=VAR_028490.
variant 202 - 202 S -> N (in HEMA; mild) /FTId=VAR_028491.
variant 202 - 202 S -> R (in HEMA; mild) /FTId=VAR_008123.
variant 214 - 214 F -> V (in HEMA) /FTId=VAR_028492.
variant 217 - 217 L -> H (in HEMA; moderate) /FTId=VAR_028493.
variant 219 - 219 A -> D (in HEMA) /FTId=VAR_028494.
variant 219 - 219 A -> T (in HEMA) /FTId=VAR_028495.
variant 220 - 220 V -> G (in HEMA; mild) /FTId=VAR_028496.
variant 222 - 222 D -> V (in HEMA; moderate) /FTId=VAR_001068.
variant 223 - 223 E -> K (in HEMA; severe) /FTId=VAR_028497.
variant 224 - 224 G -> W (in HEMA; moderate) /FTId=VAR_001069.
variant 252 - 252 T -> I (in HEMA; moderate) /FTId=VAR_028498.
variant 253 - 253 V -> F (in HEMA; severe) /FTId=VAR_001070.
variant 254 - 254 N -> I (in HEMA; severe) /FTId=VAR_017334.
variant 255 - 255 G -> V (in HEMA; severe) /FTId=VAR_015127.
variant 262 - 262 P -> L (in HEMA; moderate) /FTId=VAR_028499.
variant 263 - 263 G -> S (in HEMA) /FTId=VAR_028500.
variant 266 - 266 G -> E (in HEMA; severe) /FTId=VAR_001071.
variant 267 - 267 C -> Y (in HEMA; moderate) /FTId=VAR_028501.
variant 274 - 274 W -> C (in HEMA; dbSNP:rs34371500) /FTId=VAR_028502.
variant 275 - 275 H -> L (in HEMA; mild) /FTId=VAR_028503.
variant 278 - 278 G -> R (in HEMA; severe) /FTId=VAR_001072.
variant 284 - 284 E -> K (in HEMA; moderate) /FTId=VAR_028504.
variant 285 - 285 V -> G (in HEMA; mild) /FTId=VAR_001073.
variant 291 - 291 E -> G (in HEMA; mild) /FTId=VAR_001074.
variant 291 - 291 E -> K (in HEMA; mild) /FTId=VAR_028505.
variant 294 - 294 T -> I (in HEMA; moderate) /FTId=VAR_001075.
variant 295 - 295 F -> L (in HEMA; moderate) /FTId=VAR_028506.
variant 297 - 297 V -> A (in HEMA; mild) /FTId=VAR_028507.
variant 299 - 299 N -> I (in HEMA; mild; dbSNP:rs28935215) /FTId=VAR_001076.
variant 301 - 301 R -> C (in HEMA; severe/mild) /FTId=VAR_028508.
variant 301 - 301 R -> H (in HEMA; severe; dbSNP:rs28935216). /FTId=VAR_001077.
variant 301 - 301 R -> L (in HEMA; severe) /FTId=VAR_001078.
variant 302 - 302 Missing (in HEMA) /FTId=VAR_028509.
variant 303 - 303 A -> E (in HEMA; mild) /FTId=VAR_028510.
variant 303 - 303 A -> P (in HEMA; mild) /FTId=VAR_028511.
variant 307 - 307 I -> S (in HEMA; moderate) /FTId=VAR_028512.
variant 308 - 308 S -> L (in HEMA; moderate; dbSNP:rs28937268). /FTId=VAR_001079.
variant 312 - 312 F -> S (in HEMA; mild/moderate) /FTId=VAR_001080.
variant 314 - 314 T -> A (in HEMA; mild; dbSNP:rs28937269) /FTId=VAR_001081.
variant 314 - 314 T -> I (in HEMA; moderate) /FTId=VAR_001082.
variant 315 - 315 A -> V (in HEMA) /FTId=VAR_028513.
variant 320 - 320 Missing (in HEMA; severe) /FTId=VAR_028514.
variant 323 - 323 G -> E (in HEMA; severe) /FTId=VAR_015128.
variant 326 - 326 L -> P (in HEMA) /FTId=VAR_028515.
variant 327 - 327 L -> P (in HEMA; severe; dbSNP:rs28937270). /FTId=VAR_001083.
variant 327 - 327 L -> V (in HEMA; mild) /FTId=VAR_028516.
variant 329 - 329 C -> F (in HEMA) /FTId=VAR_028517.
variant 331 - 331 I -> V (in HEMA; mild) /FTId=VAR_001084.
variant 339 - 339 M -> T (in HEMA; moderate) /FTId=VAR_028518.
variant 340 - 340 E -> K (in HEMA) /FTId=VAR_028519.
variant 345 - 345 V -> A (in HEMA) /FTId=VAR_028520.
variant 345 - 345 V -> L (in HEMA; severe) /FTId=VAR_001085.
variant 348 - 348 C -> R (in HEMA; severe) /FTId=VAR_001086.
variant 348 - 348 C -> S (in HEMA; moderate) /FTId=VAR_001087.
variant 348 - 348 C -> Y (in HEMA; mild/severe) /FTId=VAR_001088.
variant 365 - 365 Y -> C (in HEMA; mild) /FTId=VAR_028521.
variant 391 - 391 R -> C (in HEMA; Okayama; moderate/ severe; abolishes the normal cleavage by thrombin). /FTId=VAR_001089.
variant 391 - 391 R -> H (in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin; dbSNP:rs28935499). /FTId=VAR_001090.
variant 391 - 391 R -> P (in HEMA; severe; abolishes the normal cleavage by thrombin). /FTId=VAR_001091.
variant 392 - 392 S -> L (in HEMA; mild; abolishes normal cleavage by thrombin; dbSNP:rs28933668). /FTId=VAR_001092.
variant 392 - 392 S -> P (in HEMA; mild; dbSNP:rs28933669) /FTId=VAR_001093.
variant 401 - 401 W -> G (in HEMA) /FTId=VAR_028522.
variant 405 - 405 I -> F (in HEMA) /FTId=VAR_028523.
variant 405 - 405 I -> S (in HEMA; severe; dbSNP:rs28933670). /FTId=VAR_001094.
variant 409 - 409 E -> G (in HEMA; severe/moderate; dbSNP:rs28933671). /FTId=VAR_001095.
variant 412 - 412 W -> G (in HEMA) /FTId=VAR_028524.
variant 412 - 412 W -> R (in HEMA; severe) /FTId=VAR_028525.
variant 427 - 427 K -> I (in HEMA; mild) /FTId=VAR_028526.
variant 431 - 431 L -> F (in HEMA; moderate; dbSNP:rs28933672). /FTId=VAR_001096.
variant 431 - 431 L -> S (in HEMA; moderate) /FTId=VAR_028527.
variant 437 - 437 R -> P (in HEMA; severe) /FTId=VAR_028528.
variant 437 - 437 R -> W (in HEMA; mild) /FTId=VAR_028529.
variant 438 - 438 I -> F (in HEMA; not severe) /FTId=VAR_028530.
variant 439 - 439 G -> D (in HEMA; severe) /FTId=VAR_028531.
variant 439 - 439 G -> S (in HEMA; moderate) /FTId=VAR_017335.
variant 439 - 439 G -> V (in HEMA; severe) /FTId=VAR_001097.
variant 442 - 442 Y -> C (in HEMA) /FTId=VAR_028532.
variant 444 - 444 K -> R (in HEMA; severe; dbSNP:rs28937272). /FTId=VAR_001098.
variant 450 - 450 Y -> D (in HEMA; severe) /FTId=VAR_028533.
variant 450 - 450 Y -> N (in HEMA; mild/moderate; dbSNP:rs28937273). /FTId=VAR_001099.
variant 454 - 454 T -> I (in HEMA; mild) /FTId=VAR_028534.
variant 455 - 455 F -> C (in HEMA; mild-moderate/severe) /FTId=VAR_028535.
variant 466 - 466 G -> E (in HEMA; severe sporadic) /FTId=VAR_028536.
variant 470 - 470 P -> L (in HEMA; mild) /FTId=VAR_028537.
variant 470 - 470 P -> R (in HEMA; mild) /FTId=VAR_028538.
variant 470 - 470 P -> T (in HEMA; mild sporadic) /FTId=VAR_028539.
variant 474 - 474 G -> E (in HEMA) /FTId=VAR_028540.
variant 474 - 474 G -> R (in HEMA; severe) /FTId=VAR_001100.
variant 475 - 475 E -> K (in HEMA; moderate) /FTId=VAR_028541.
variant 477 - 477 G -> V (in HEMA; moderate) /FTId=VAR_028542.
variant 478 - 478 D -> N (in HEMA) /FTId=VAR_028543.
variant 479 - 479 T -> R (in HEMA) /FTId=VAR_028544.
variant 484 - 484 F -> C (in HEMA) /FTId=VAR_028545.
variant 488 - 488 A -> G (in HEMA; moderate) /FTId=VAR_001101.
variant 490 - 490 R -> G (in HEMA) /FTId=VAR_028546.
variant 492 - 492 Y -> C (in HEMA; moderate; dbSNP:rs28937275). /FTId=VAR_001103.
variant 492 - 492 Y -> H (in HEMA; mild; dbSNP:rs28937274) /FTId=VAR_001102.
variant 494 - 494 I -> T (in HEMA; mild; dbSNP:rs28936968) /FTId=VAR_001104.
variant 498 - 498 G -> R (in HEMA; severe/moderate; dbSNP:rs28936969). /FTId=VAR_001105.
variant 503 - 503 R -> H (in HEMA; dbSNP:rs35383156) /FTId=VAR_028547.
variant 513 - 513 G -> S (in HEMA; moderate) /FTId=VAR_028548.
variant 522 - 522 I -> Y (in HEMA; requires 2 nucleotide substitutions). /FTId=VAR_028549.
variant 529 - 529 K -> E (in HEMA; moderate) /FTId=VAR_017336.
variant 532 - 532 W -> G (in HEMA) /FTId=VAR_028550.
variant 540 - 540 P -> T (in HEMA) /FTId=VAR_028551.
variant 541 - 541 T -> S (in HEMA; mild) /FTId=VAR_028552.
variant 544 - 544 D -> N (in HEMA; moderate; dbSNP:rs28937276). /FTId=VAR_001106.
variant 546 - 546 R -> W (in HEMA; mild; dbSNP:rs28937277) /FTId=VAR_001107.
variant 550 - 550 R -> C (in HEMA; mild/moderate; dbSNP:rs28937278). /FTId=VAR_001108.
variant 550 - 550 R -> G (in HEMA; mild) /FTId=VAR_001109.
variant 550 - 550 R -> H (in HEMA; mild/moderate; dbSNP:rs28937279). /FTId=VAR_001110.
variant 553 - 553 S -> P (in HEMA; severe) /FTId=VAR_028553.
variant 554 - 554 S -> C (in HEMA; moderate) /FTId=VAR_028554.
variant 554 - 554 S -> G (in HEMA; mild) /FTId=VAR_001111.
variant 556 - 556 V -> D (in HEMA; moderate) /FTId=VAR_001112.
variant 560 - 560 R -> T (in HEMA; mild) /FTId=VAR_028555.
variant 561 - 561 D -> G (in HEMA; severe) /FTId=VAR_028556.
variant 561 - 561 D -> H (in HEMA) /FTId=VAR_028557.
variant 561 - 561 D -> Y (in HEMA; severe) /FTId=VAR_008967.
variant 567 - 567 I -> T (in HEMA; mild) /FTId=VAR_017337.
variant 577 - 577 S -> F (in HEMA; mild) /FTId=VAR_001113.
variant 578 - 578 V -> A (in HEMA; mild) /FTId=VAR_028558.
variant 579 - 579 D -> A (in HEMA; mild) /FTId=VAR_028559.
variant 579 - 579 D -> H (in HEMA; mild) /FTId=VAR_028560.
variant 583 - 583 N -> S (in HEMA; mild) /FTId=VAR_028561.
variant 584 - 584 Q -> H (in HEMA; mild) /FTId=VAR_028562.
variant 584 - 584 Q -> K (in HEMA; moderate) /FTId=VAR_001114.
variant 584 - 584 Q -> R (in HEMA) /FTId=VAR_028563.
variant 585 - 585 I -> R (in HEMA; moderate-severe) /FTId=VAR_028564.
variant 585 - 585 I -> T (in HEMA; severe/moderate) /FTId=VAR_001115.
variant 586 - 586 M -> V (in HEMA; mild) /FTId=VAR_015129.
variant 588 - 588 D -> G (in HEMA) /FTId=VAR_028565.
variant 588 - 588 D -> Y (in HEMA) /FTId=VAR_028566.
variant 594 - 594 L -> Q (in HEMA; mild) /FTId=VAR_028567.
variant 596 - 596 S -> P (in HEMA; severe) /FTId=VAR_001116.
variant 601 - 601 N -> D (in HEMA) /FTId=VAR_028568.
variant 601 - 601 N -> K (in HEMA) /FTId=VAR_028569.
variant 602 - 602 R -> G (in HEMA; mild familial) /FTId=VAR_028570.
variant 603 - 603 S -> I (in HEMA) /FTId=VAR_001117.
variant 603 - 603 S -> R (in HEMA; severe) /FTId=VAR_028571.
variant 604 - 604 W -> C (in HEMA; severe) /FTId=VAR_001118.
variant 605 - 605 Y -> H (in HEMA) /FTId=VAR_028572.
variant 605 - 605 Y -> S (in HEMA; severe) /FTId=VAR_001119.
variant 609 - 609 N -> I (in HEMA; moderate) /FTId=VAR_028573.
variant 612 - 612 R -> C (in HEMA; mild/moderate; secretion impaired). /FTId=VAR_001120.
variant 631 - 631 N -> K (in HEMA; severe) /FTId=VAR_001121.
variant 631 - 631 N -> S (in HEMA) /FTId=VAR_001122.
variant 633 - 633 M -> I (in HEMA; mild) /FTId=VAR_028574.
variant 635 - 635 S -> N (in HEMA; mild) /FTId=VAR_028575.
variant 637 - 637 N -> D (in HEMA; severe sporadic/ moderate). /FTId=VAR_028576.
variant 637 - 637 N -> S (in HEMA; mild; secretion impaired). /FTId=VAR_028577.
variant 639 - 639 Y -> C (in HEMA; moderate) /FTId=VAR_028578.
variant 644 - 644 L -> V (in HEMA; mild) /FTId=VAR_001123.
variant 650 - 650 L -> F (in HEMA; mild) /FTId=VAR_028579.
variant 653 - 653 V -> A (in HEMA; mild) /FTId=VAR_001124.
variant 653 - 653 V -> M (in HEMA; severe) /FTId=VAR_001125.
variant 659 - 659 L -> P (in HEMA) /FTId=VAR_028580.
variant 663 - 663 A -> V (in HEMA; mild) /FTId=VAR_001126.
variant 664 - 664 Q -> P (in HEMA; moderate-severe) /FTId=VAR_028581.
variant 671 - 671 Missing (in HEMA; severe) /FTId=VAR_001127.
variant 677 - 677 F -> L (in HEMA; moderate) /FTId=VAR_001128.
variant 681 - 681 M -> I (in HEMA; mild) /FTId=VAR_028582.
variant 682 - 682 V -> F (in HEMA) /FTId=VAR_028583.
variant 683 - 683 Y -> C (in HEMA; severe) /FTId=VAR_028584.
variant 683 - 683 Y -> N (in HEMA; mild) /FTId=VAR_028585.
variant 686 - 686 T -> R (in HEMA) /FTId=VAR_028586.
variant 698 - 698 F -> L (in HEMA) /FTId=VAR_028587.
variant 699 - 699 M -> T (in HEMA; mild) /FTId=VAR_028588.
variant 699 - 699 M -> V (in HEMA; severe) /FTId=VAR_001129.
variant 701 - 701 M -> I (in HEMA; mild) /FTId=VAR_028589.
variant 705 - 705 G -> V (in HEMA; moderate) /FTId=VAR_028590.
variant 710 - 710 G -> W (in HEMA) /FTId=VAR_028591.
variant 713 - 713 N -> I (in HEMA; mild) /FTId=VAR_028592.
variant 717 - 717 R -> L (in HEMA; mild) /FTId=VAR_028593.
variant 717 - 717 R -> W (in HEMA; mild) /FTId=VAR_001130.
variant 720 - 720 G -> D (in HEMA; severe/moderate) /FTId=VAR_001131.
variant 720 - 720 G -> S (in HEMA) /FTId=VAR_028594.
variant 721 - 721 M -> I (in HEMA; severe) /FTId=VAR_028595.
variant 721 - 721 M -> L (in HEMA; mild) /FTId=VAR_028596.
variant 723 - 723 A -> T (in HEMA; moderate) /FTId=VAR_001132.
variant 725 - 725 L -> Q (in HEMA; severe) /FTId=VAR_028597.
variant 727 - 727 V -> F (in HEMA; severe) /FTId=VAR_001133.
variant 739 - 739 E -> K (in HEMA; mild; dbSNP:rs28937285) /FTId=VAR_001134.
variant 742 - 742 Y -> C (in HEMA; mild) /FTId=VAR_028598.
variant 795 - 795 R -> G (in dbSNP:rs2228152) /FTId=VAR_024380.
variant 947 - 947 P -> R (in HEMA) /FTId=VAR_028599.
variant 1012 - 1012 V -> L (in HEMA) /FTId=VAR_028600.
variant 1057 - 1057 E -> K (in HEMA; moderate; dbSNP:rs28933673). /FTId=VAR_001135.
variant 1066 - 1066 H -> Y (in HEMA) /FTId=VAR_028601.
variant 1260 - 1260 D -> E (in dbSNP:rs1800291) /FTId=VAR_001136.
variant 1289 - 1289 K -> Q (in dbSNP:rs1800292) /FTId=VAR_048438.
variant 1336 - 1336 Q -> K (in HEMA) /FTId=VAR_028602.
variant 1460 - 1460 N -> K (in HEMA) /FTId=VAR_028603.
variant 1481 - 1481 L -> P (in dbSNP:rs1800294) /FTId=VAR_001137.
variant 1610 - 1610 A -> S (in HEMA) /FTId=VAR_028604.
variant 1698 - 1698 I -> T (in HEMA; mild) /FTId=VAR_028605.
variant 1699 - 1699 Y -> C (in HEMA; severe) /FTId=VAR_001138.
variant 1699 - 1699 Y -> F (in HEMA; moderate; dbSNP:rs28935203). /FTId=VAR_001139.
variant 1701 - 1701 E -> K (in HEMA; mild) /FTId=VAR_028606.
variant 1705 - 1705 Q -> H (in HEMA; mild sporadic) /FTId=VAR_028607.
variant 1708 - 1708 R -> C (in HEMA; East Hartford; severe/ moderate/mild; abolishes thrombin cleavage at the light chain). /FTId=VAR_001140.
variant 1708 - 1708 R -> H (in HEMA; mild; abolishes thrombin cleavage at the light chain; dbSNP:rs28937286). /FTId=VAR_001141.
variant 1714 - 1714 T -> S (in HEMA; moderate) /FTId=VAR_028608.
variant 1715 - 1715 R -> G (in HEMA; mild) /FTId=VAR_001142.
variant 1723 - 1723 E -> K (in HEMA; severe) /FTId=VAR_001143.
variant 1727 - 1727 D -> V (in HEMA; mild) /FTId=VAR_028609.
variant 1728 - 1728 Y -> C (in HEMA; moderate) /FTId=VAR_001144.
variant 1740 - 1740 R -> G (in HEMA; mild) /FTId=VAR_028610.
variant 1751 - 1751 K -> Q (in HEMA) /FTId=VAR_028611.
variant 1768 - 1768 R -> H (in HEMA) /FTId=VAR_028612.
variant 1769 - 1769 G -> R (in HEMA; mild) /FTId=VAR_001145.
variant 1771 - 1771 L -> P (in HEMA) /FTId=VAR_028613.
variant 1775 - 1775 L -> F (in HEMA; mild) /FTId=VAR_001147.
variant 1775 - 1775 L -> V (in HEMA; moderate) /FTId=VAR_001146.
variant 1777 - 1777 L -> P (in HEMA; moderate) /FTId=VAR_028614.
variant 1779 - 1779 G -> E (in HEMA; severe/moderate) /FTId=VAR_001148.
variant 1779 - 1779 G -> R (in HEMA; severe) /FTId=VAR_028615.
variant 1780 - 1780 P -> L (in HEMA; moderate) /FTId=VAR_028616.
variant 1782 - 1782 I -> R (in HEMA; severe sporadic) /FTId=VAR_028617.
variant 1788 - 1788 D -> H (in HEMA; mild) /FTId=VAR_028618.
variant 1791 - 1791 M -> T (in HEMA; severe) /FTId=VAR_001149.
variant 1798 - 1798 A -> P (in HEMA; severe) /FTId=VAR_028619.
variant 1799 - 1799 S -> H (in HEMA; requires 2 nucleotide substitutions). /FTId=VAR_028620.
variant 1800 - 1800 R -> C (in HEMA; moderate) /FTId=VAR_001151.
variant 1800 - 1800 R -> G (in HEMA; mild) /FTId=VAR_001152.
variant 1800 - 1800 R -> H (in HEMA; moderate/severe) /FTId=VAR_001150.
variant 1801 - 1801 P -> A (in HEMA; mild) /FTId=VAR_028621.
variant 1802 - 1802 Y -> C (in HEMA; moderate) /FTId=VAR_028622.
variant 1803 - 1803 S -> Y (in HEMA; severe) /FTId=VAR_001153.
variant 1804 - 1804 F -> S (in HEMA; severe) /FTId=VAR_017338.
variant 1808 - 1808 L -> F (in HEMA; mild) /FTId=VAR_001154.
variant 1842 - 1842 M -> I (in HEMA; moderate; dbSNP:rs28933674). /FTId=VAR_001155.
variant 1844 - 1844 P -> S (in HEMA; mild; dbSNP:rs28933675) /FTId=VAR_001156.
variant 1845 - 1845 T -> P (in HEMA; mild; dbSNP:rs28933676) /FTId=VAR_001157.
variant 1848 - 1848 E -> G (in HEMA; mild) /FTId=VAR_028623.
variant 1853 - 1853 A -> T (in HEMA; moderate/severe) /FTId=VAR_001158.
variant 1853 - 1853 A -> V (in HEMA; mild; dbSNP:rs28933677) /FTId=VAR_001159.
variant 1858 - 1858 S -> C (in HEMA; moderate) /FTId=VAR_028624.
variant 1864 - 1864 K -> E (in HEMA) /FTId=VAR_028625.
variant 1865 - 1865 D -> N (in HEMA; severe) /FTId=VAR_001160.
variant 1865 - 1865 D -> Y (in HEMA; severe) /FTId=VAR_001161.
variant 1867 - 1867 H -> P (in HEMA; mild) /FTId=VAR_028626.
variant 1867 - 1867 H -> R (in HEMA; moderate; dbSNP:rs28933679). /FTId=VAR_001162.
variant 1869 - 1869 G -> D (in HEMA; severe) /FTId=VAR_028627.
variant 1869 - 1869 G -> V (in HEMA; severe) /FTId=VAR_001163.
variant 1872 - 1872 G -> E (in HEMA; severe sporadic) /FTId=VAR_028628.
variant 1873 - 1873 P -> R (in HEMA; severe; dbSNP:rs28933680). /FTId=VAR_001164.
variant 1875 - 1875 L -> P (in HEMA) /FTId=VAR_028629.
variant 1876 - 1876 V -> L (in HEMA; mild) /FTId=VAR_028630.
variant 1877 - 1877 C -> R (in HEMA) /FTId=VAR_028631.
variant 1882 - 1882 L -> P (in HEMA) /FTId=VAR_028632.
variant 1888 - 1888 R -> I (in HEMA; severe) /FTId=VAR_001165.
variant 1894 - 1894 E -> G (in HEMA; moderate) /FTId=VAR_001166.
variant 1901 - 1901 I -> F (in HEMA; mild) /FTId=VAR_028633.
variant 1904 - 1904 E -> D (in HEMA) /FTId=VAR_028634.
variant 1904 - 1904 E -> K (in HEMA; severe; dbSNP:rs28933681). /FTId=VAR_001167.
variant 1907 - 1907 S -> C (in HEMA; moderate) /FTId=VAR_028635.
variant 1907 - 1907 S -> R (in HEMA; severe) /FTId=VAR_028636.
variant 1908 - 1908 W -> L (in HEMA; mild) /FTId=VAR_028637.
variant 1909 - 1909 Y -> C (in HEMA; moderate) /FTId=VAR_028638.
variant 1939 - 1939 A -> T (in HEMA; severe) /FTId=VAR_028639.
variant 1939 - 1939 A -> V (in HEMA; second mutation; could be a polymorphism). /FTId=VAR_028640.
variant 1941 - 1941 N -> D (in HEMA; severe/moderate) /FTId=VAR_001168.
variant 1941 - 1941 N -> S (in HEMA; severe/moderate; dbSNP:rs28933682). /FTId=VAR_001169.
variant 1942 - 1942 G -> A (in HEMA; moderate) /FTId=VAR_015130.
variant 1945 - 1945 M -> V (in HEMA; moderate) /FTId=VAR_028641.
variant 1951 - 1951 L -> F (in HEMA; mild) /FTId=VAR_028642.
variant 1960 - 1960 R -> L (in HEMA; moderate) /FTId=VAR_001171.
variant 1960 - 1960 R -> Q (in HEMA; mild/moderate; dbSNP:rs28937294). /FTId=VAR_001170.
variant 1963 - 1963 L -> P (in HEMA; severe) /FTId=VAR_015131.
variant 1965 - 1965 S -> I (in HEMA) /FTId=VAR_028643.
variant 1966 - 1966 M -> I (in HEMA; mild) /FTId=VAR_028644.
variant 1966 - 1966 M -> V (in HEMA; mild) /FTId=VAR_028645.
variant 1967 - 1967 G -> D (in HEMA; moderate; dbSNP:rs28937295). /FTId=VAR_001172.
variant 1968 - 1968 S -> R (in HEMA; mild) /FTId=VAR_028646.
variant 1971 - 1971 N -> T (in HEMA) /FTId=VAR_028647.
variant 1973 - 1973 H -> L (in HEMA; mild) /FTId=VAR_028648.
variant 1979 - 1979 G -> V (in HEMA; moderate) /FTId=VAR_001173.
variant 1980 - 1980 H -> P (in HEMA) /FTId=VAR_028649.
variant 1980 - 1980 H -> Y (in HEMA; mild) /FTId=VAR_001174.
variant 1982 - 1982 F -> I (in HEMA; mild) /FTId=VAR_028650.
variant 1985 - 1985 R -> Q (in HEMA; mild) /FTId=VAR_028651.
variant 1994 - 1994 L -> P (in HEMA; moderate) /FTId=VAR_028652.
variant 1998 - 1998 Y -> C (in HEMA; mild) /FTId=VAR_028653.
variant 2000 - 2000 G -> A (in HEMA; moderate-severe) /FTId=VAR_028654.
variant 2004 - 2004 T -> R (in HEMA; sporadic) /FTId=VAR_028655.
variant 2007 - 2007 M -> I (in HEMA; mild) /FTId=VAR_028656.
variant 2015 - 2015 W -> C (in HEMA; moderate) /FTId=VAR_028657.
variant 2016 - 2016 R -> P (in HEMA; severe familial) /FTId=VAR_028658.
variant 2016 - 2016 R -> W (in HEMA; severe/moderate/mild) /FTId=VAR_001175.
variant 2018 - 2018 E -> G (in HEMA; moderate) /FTId=VAR_028659.
variant 2022 - 2022 G -> D (in HEMA; severe) /FTId=VAR_028660.
variant 2028 - 2028 G -> R (in HEMA) /FTId=VAR_028661.
variant 2030 - 2030 S -> N (in HEMA; mild) /FTId=VAR_028662.
variant 2035 - 2035 V -> A (in HEMA) /FTId=VAR_028663.
variant 2036 - 2036 Y -> C (in HEMA; moderate) /FTId=VAR_015132.
variant 2038 - 2038 N -> S (in HEMA; mild/moderate) /FTId=VAR_001176.
variant 2040 - 2040 C -> Y (in HEMA) /FTId=VAR_028664.
variant 2045 - 2045 G -> E (in HEMA; mild) /FTId=VAR_028665.
variant 2045 - 2045 G -> V (in HEMA; severe sporadic) /FTId=VAR_028666.
variant 2051 - 2051 I -> S (in HEMA; severe) /FTId=VAR_017339.
variant 2056 - 2056 I -> N (in HEMA; severe) /FTId=VAR_028667.
variant 2058 - 2058 A -> P (in HEMA; moderate) /FTId=VAR_028668.
variant 2065 - 2065 W -> R (in HEMA; moderate) /FTId=VAR_001177.
variant 2067 - 2067 P -> L (in HEMA; severe sporadic) /FTId=VAR_028669.
variant 2070 - 2070 A -> V (in HEMA; mild) /FTId=VAR_028670.
variant 2082 - 2082 S -> N (in HEMA; severe) /FTId=VAR_028671.
variant 2088 - 2088 S -> F (in HEMA; severe) /FTId=VAR_001178.
variant 2093 - 2093 D -> G (in HEMA; mild) /FTId=VAR_001179.
variant 2093 - 2093 D -> Y (in HEMA; severe familial) /FTId=VAR_028672.
variant 2105 - 2105 T -> N (in HEMA; moderate) /FTId=VAR_001180.
variant 2106 - 2106 Q -> E (in HEMA; mild) /FTId=VAR_028673.
variant 2106 - 2106 Q -> R (in HEMA; mild) /FTId=VAR_028674.
variant 2107 - 2107 G -> S (in HEMA; severe) /FTId=VAR_001181.
variant 2109 - 2109 R -> C (in HEMA; mild) /FTId=VAR_028675.
variant 2117 - 2117 I -> F (in HEMA) /FTId=VAR_028676.
variant 2117 - 2117 I -> S (in HEMA; mild-moderate; affinity for VWF reduced 8-fold). /FTId=VAR_028677.
variant 2119 - 2119 Q -> R (in HEMA; moderate) /FTId=VAR_028678.
variant 2120 - 2120 F -> C (in HEMA) /FTId=VAR_028679.
variant 2120 - 2120 F -> L (in HEMA; mild) /FTId=VAR_001182.
variant 2124 - 2124 Y -> C (in HEMA; mild) /FTId=VAR_001183.
variant 2135 - 2135 R -> P (in HEMA; severe) /FTId=VAR_001184.
variant 2138 - 2138 S -> Y (in HEMA; moderate; affinity for VWF reduced 80-fold). /FTId=VAR_001185.
variant 2141 - 2141 T -> N (in HEMA; severe) /FTId=VAR_017340.
variant 2145 - 2145 F -> C (in HEMA; mild) /FTId=VAR_028680.
variant 2148 - 2148 N -> S (in HEMA; moderate) /FTId=VAR_001186.
variant 2157 - 2157 N -> D (in HEMA; mild) /FTId=VAR_028681.
variant 2162 - 2162 P -> L (in HEMA; severe) /FTId=VAR_028682.
variant 2169 - 2169 R -> C (in HEMA; mild) /FTId=VAR_028683.
variant 2169 - 2169 R -> H (in HEMA; severe/mild; affinity for VWF reducced 3-fold). /FTId=VAR_001187.
variant 2172 - 2172 P -> Q (in HEMA; moderate) /FTId=VAR_001188.
variant 2172 - 2172 P -> R (in HEMA; severe) /FTId=VAR_015133.
variant 2173 - 2173 T -> A (in HEMA; mild) /FTId=VAR_028684.
variant 2173 - 2173 T -> I (in HEMA; mild) /FTId=VAR_001189.
variant 2174 - 2174 H -> D (in HEMA) /FTId=VAR_028685.
variant 2178 - 2178 R -> C (in HEMA; mild/moderate) /FTId=VAR_001190.
variant 2178 - 2178 R -> H (in HEMA; mild) /FTId=VAR_001191.
variant 2178 - 2178 R -> L (in HEMA; mild) /FTId=VAR_001192.
variant 2182 - 2182 R -> C (in HEMA; severe/moderate) /FTId=VAR_001193.
variant 2182 - 2182 R -> H (in HEMA; severe/moderate) /FTId=VAR_001194.
variant 2182 - 2182 R -> P (in HEMA; moderate/severe) /FTId=VAR_028686.
variant 2183 - 2183 M -> R (in HEMA; moderate) /FTId=VAR_028687.
variant 2183 - 2183 M -> V (in HEMA; mild) /FTId=VAR_001195.
variant 2185 - 2185 L -> S (in HEMA; severe) /FTId=VAR_001196.
variant 2185 - 2185 L -> W (in HEMA) /FTId=VAR_028688.
variant 2192 - 2192 S -> I (in HEMA; mild) /FTId=VAR_028689.
variant 2193 - 2193 C -> G (in HEMA) /FTId=VAR_017341.
variant 2196 - 2196 P -> R (in HEMA) /FTId=VAR_028690.
variant 2198 - 2198 G -> V (in HEMA; severe sporadic) /FTId=VAR_028691.
variant 2200 - 2200 E -> D (in HEMA) /FTId=VAR_028692.
variant 2204 - 2204 I -> T (in HEMA; mild) /FTId=VAR_001197.
variant 2209 - 2209 I -> N (in HEMA; moderate) /FTId=VAR_001198.
variant 2211 - 2211 A -> P (in HEMA; moderate) /FTId=VAR_001199.
variant 2220 - 2220 A -> P (in HEMA; mild) /FTId=VAR_028693.
variant 2223 - 2223 Missing (in HEMA; severe/moderate) /FTId=VAR_001200.
variant 2224 - 2224 Missing (in HEMA; moderate) /FTId=VAR_028694.
variant 2224 - 2224 P -> L (in HEMA) /FTId=VAR_028695.
variant 2228 - 2228 R -> G (in HEMA; severe) /FTId=VAR_001201.
variant 2228 - 2228 R -> L (in HEMA; moderate) /FTId=VAR_001202.
variant 2228 - 2228 R -> P (in HEMA; moderate-severe) /FTId=VAR_028696.
variant 2228 - 2228 R -> Q (in HEMA; severe/moderate) /FTId=VAR_001203.
variant 2229 - 2229 L -> F (in HEMA) /FTId=VAR_028697.
variant 2242 - 2242 V -> M /FTId=VAR_001204.
variant 2248 - 2248 W -> C (in HEMA; moderate) /FTId=VAR_001205.
variant 2248 - 2248 W -> S (in HEMA; moderate) /FTId=VAR_028698.
variant 2251 - 2251 V -> A (in HEMA; mild) /FTId=VAR_028699.
variant 2251 - 2251 V -> E (in HEMA) /FTId=VAR_028700.
variant 2257 - 2257 M -> V (in HEMA; moderate; could be a polymorphism; dbSNP:rs1800297). /FTId=VAR_021356.
variant 2262 - 2262 V -> VQ (in HEMA; moderate) /FTId=VAR_017342.
variant 2264 - 2264 T -> A (in HEMA) /FTId=VAR_028701.
variant 2265 - 2265 Q -> R (in HEMA; moderate) /FTId=VAR_001206.
variant 2279 - 2279 F -> C (in HEMA; severe sporadic) /FTId=VAR_028702.
variant 2279 - 2279 F -> I (in HEMA) /FTId=VAR_028703.
variant 2281 - 2281 I -> T (in HEMA; severe) /FTId=VAR_028704.
variant 2290 - 2290 W -> L (in HEMA) /FTId=VAR_028705.
variant 2304 - 2304 G -> V (in HEMA) /FTId=VAR_028706.
variant 2307 - 2307 D -> A (in HEMA; moderate/mild) /FTId=VAR_015134.
variant 2319 - 2319 P -> L (in HEMA; mild/severe) /FTId=VAR_001207.
variant 2319 - 2319 P -> S (in HEMA; mild) /FTId=VAR_001208.
variant 2323 - 2323 R -> C (in HEMA; severe/moderate; may cause reduced phospholipid binding). /FTId=VAR_001209.
variant 2323 - 2323 R -> G (in HEMA; moderate) /FTId=VAR_028707.
variant 2323 - 2323 R -> H (in HEMA; mild; may cause reduced phospholipid binding). /FTId=VAR_001210.
variant 2323 - 2323 R -> L (in HEMA; mild) /FTId=VAR_028708.
variant 2326 - 2326 R -> G (in HEMA) /FTId=VAR_028709.
variant 2326 - 2326 R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding). /FTId=VAR_001211.
variant 2326 - 2326 R -> P (in HEMA; severe sporadic) /FTId=VAR_028710.
variant 2326 - 2326 R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding). /FTId=VAR_001212.
variant 2330 - 2330 Q -> P (in HEMA; severe) /FTId=VAR_028711.
variant 2332 - 2332 W -> R (in HEMA; severe) /FTId=VAR_028712.
variant 2339 - 2339 R -> T (in HEMA; moderate) /FTId=VAR_028713.
variant 2344 - 2344 G -> C (in HEMA; moderate) /FTId=VAR_008968.
variant 2344 - 2344 G -> S (in HEMA) /FTId=VAR_028714.
variant 2345 - 2345 C -> S (in HEMA) /FTId=VAR_028715.
variant 2345 - 2345 C -> Y (in HEMA) /FTId=VAR_028716.
keyword 1 - 2351 3D-structure
keyword 1 - 2351 Acute phase
keyword 1 - 2351 Blood coagulation
keyword 1 - 2351 Calcium
keyword 1 - 2351 Complete proteome
keyword 1 - 2351 Direct protein sequencing
keyword 1 - 2351 Disease mutation
keyword 1 - 2351 Disulfide bond
keyword 1 - 2351 Glycoprotein
keyword 1 - 2351 Hemophilia
keyword 1 - 2351 Metal-binding
keyword 1 - 2351 Pharmaceutical
keyword 1 - 2351 Polymorphism
keyword 1 - 2351 Repeat
keyword 1 - 2351 Secreted
keyword 1 - 2351 Signal
keyword 1 - 2351 Sulfation
Molecular Weight 1 - 2351 267009
1 hit 1 - 2351 PF00394
1 hit 1 - 2351 PF07731
2 hits 1 - 2351 PF00754
2 hits 1 - 2351 PF07732
2 hits 1 - 2351 PS01285
2 hits 1 - 2351 PS01286
2 hits 1 - 2351 PS50022
3 hits 1 - 2351 PS00079

If you do not find the reagent or information you require, please contact customer.support@lsbio.com to inquire about additional products in development.

PLEASE NOTE

For RESEARCH USE ONLY. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

Copyright © 2014 LifeSpan BioSciences, Inc. All Rights Reserved