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P00451 (FA8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 195. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Coagulation factor VIII
Alternative name(s):
Antihemophilic factor
Short name=AHF
Procoagulant component
Gene names
Name:F8
Synonyms:F8C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2351 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation. Ref.14 Ref.15

Subcellular location

Secretedextracellular space.

Domain

Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity.

Post-translational modification

Sulfation on Tyr-1699 is essential for binding vWF.

Involvement in disease

Hemophilia A (HEMA) [MIM:306700]: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
Note: The disease is caused by mutations affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein. Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.60 Ref.61 Ref.62 Ref.63 Ref.64 Ref.65 Ref.66 Ref.67 Ref.68 Ref.69 Ref.70 Ref.71 Ref.72 Ref.73 Ref.74 Ref.75 Ref.76 Ref.77 Ref.78 Ref.79 Ref.80 Ref.81 Ref.82 Ref.83 Ref.84 Ref.86 Ref.87 Ref.88 Ref.89 Ref.90 Ref.91 Ref.92 Ref.93 Ref.94 Ref.95 Ref.96 Ref.97 Ref.98 Ref.99 Ref.100 Ref.101

Pharmaceutical use

Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to treat hemophilia A.

Sequence similarities

Belongs to the multicopper oxidase family.

Contains 3 F5/8 type A domains.

Contains 2 F5/8 type C domains.

Contains 6 plastocyanin-like domains.

Mass spectrometry

Molecular mass is 1367.6 Da from positions 356 - 378. Determined by ESI. Nonsulfated. Ref.12

Molecular mass is 1407.4 Da from positions 356 - 378. Determined by ESI. Sulfated. Ref.12

Molecular mass is 2975.4 Da from positions 400 - 424. Determined by ESI. Nonsulfated. Ref.12

Molecular mass is 3024 Da from positions 727 - 752. Determined by ESI. Nonsulfated. Ref.12

Molecular mass is 3104 Da from positions 727 - 752. Determined by ESI. Monosulfated. Ref.12

Molecular mass is 3183.5 Da from positions 727 - 752. Determined by ESI. Disulfated. Ref.12

Molecular mass is 3262.5 Da from positions 727 - 752. Determined by ESI. Trisulfated. Ref.12

Molecular mass is 2460.9 Da from positions 1672 - 1692. Determined by ESI. Nonsulfated. Ref.12

Molecular mass is 2540.7 Da from positions 1672 - 1692. Determined by ESI. Sulfated. Ref.12

Molecular mass is 2000.7 Da from positions 1691 - 1708. Determined by ESI. Nonsulfated. Ref.12

Molecular mass is 2080.7 Da from positions 1691 - 1708. Determined by ESI. Sulfated. Ref.12

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P00451-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P00451-2)

Also known as: F8B;

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MQIELSTC → MRIQDPGK
     9-2143: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919
Chain20 – 23512332Coagulation factor VIII
PRO_0000002967
Chain20 – 13321313Factor VIIIa heavy chain, 200 kDa isoform
PRO_0000002968
Chain20 – 759740Factor VIIIa heavy chain, 92 kDa isoform
PRO_0000002969
Chain760 – 1332573Factor VIII B chain
PRO_0000002970
Chain1668 – 2351684Factor VIIIa light chain
PRO_0000002971

Regions

Domain20 – 348329F5/8 type A 1
Domain20 – 198179Plastocyanin-like 1
Domain206 – 348143Plastocyanin-like 2
Domain399 – 730332F5/8 type A 2
Domain399 – 573175Plastocyanin-like 3
Domain583 – 730148Plastocyanin-like 4
Domain1713 – 2040328F5/8 type A 3
Domain1713 – 1877165Plastocyanin-like 5
Domain1887 – 2040154Plastocyanin-like 6
Domain2040 – 2188149F5/8 type C 1
Domain2193 – 2345153F5/8 type C 2
Region760 – 1667908B

Sites

Site391 – 3922Cleavage; by thrombin
Site759 – 7602Cleavage; by thrombin
Site1332 – 13332Cleavage (activation)
Site1667 – 16682Cleavage (activation)
Site1708 – 17092Cleavage; by thrombin

Amino acid modifications

Modified residue3651Sulfotyrosine Ref.12 Ref.14
Modified residue7371Sulfotyrosine Ref.12
Modified residue7381Sulfotyrosine Ref.12
Modified residue7421Sulfotyrosine Ref.12
Modified residue16831Sulfotyrosine Ref.12 Ref.14
Modified residue16991Sulfotyrosine Ref.12 Ref.13 Ref.14
Glycosylation601N-linked (GlcNAc...) Potential
Glycosylation2581N-linked (GlcNAc...) Potential
Glycosylation6011N-linked (GlcNAc...) Ref.17
Glycosylation7761N-linked (GlcNAc...) Potential
Glycosylation8031N-linked (GlcNAc...) Potential
Glycosylation8471N-linked (GlcNAc...) Potential
Glycosylation9191N-linked (GlcNAc...) Potential
Glycosylation9621N-linked (GlcNAc...) Potential
Glycosylation9821N-linked (GlcNAc...) Potential
Glycosylation10201N-linked (GlcNAc...) Potential
Glycosylation10241N-linked (GlcNAc...) Potential
Glycosylation10741N-linked (GlcNAc...) Potential
Glycosylation10851N-linked (GlcNAc...) Potential
Glycosylation12041N-linked (GlcNAc...) Potential
Glycosylation12741N-linked (GlcNAc...) Potential
Glycosylation12781N-linked (GlcNAc...) Potential
Glycosylation13011N-linked (GlcNAc...) Potential
Glycosylation13191N-linked (GlcNAc...) Potential
Glycosylation14311N-linked (GlcNAc...) Potential
Glycosylation14611N-linked (GlcNAc...) Potential
Glycosylation18291N-linked (GlcNAc...) Potential
Glycosylation21371N-linked (GlcNAc...) Potential
Disulfide bond172 ↔ 198 Ref.16
Disulfide bond267 ↔ 348 Ref.16
Disulfide bond547 ↔ 573 Ref.16
Disulfide bond649 ↔ 730 Ref.16
Disulfide bond1851 ↔ 1877 Ref.16
Disulfide bond1918 ↔ 1922 Ref.16
Disulfide bond2040 ↔ 2188 Ref.16
Disulfide bond2193 ↔ 2345 By similarity

Natural variations

Alternative sequence1 – 88MQIELSTC → MRIQDPGK in isoform 2.
VSP_042656
Alternative sequence9 – 21432135Missing in isoform 2.
VSP_042657
Natural variant191S → R in HEMA. Ref.68
VAR_028447
Natural variant221R → T in HEMA; severe. Ref.89
VAR_028448
Natural variant241Y → C in HEMA. Ref.70
VAR_028449
Natural variant251Y → C in HEMA; mild. Ref.89
VAR_028450
Natural variant261L → P in HEMA; severe. Ref.89
VAR_028451
Natural variant261L → R in HEMA; severe. Ref.52 Ref.70 Ref.95
VAR_001045
Natural variant301E → V in HEMA; mild. Ref.45
VAR_001046
Natural variant331W → G in HEMA; moderate. Ref.57
VAR_028452
Natural variant351Y → C in HEMA; mild/severe. Ref.86
VAR_028453
Natural variant351Y → H in HEMA; severe. Ref.75
VAR_028454
Natural variant411G → C in HEMA; severe/moderate.
VAR_001047
Natural variant481R → C in HEMA; severe.
VAR_001048
Natural variant481R → K in HEMA. Ref.52
VAR_028455
Natural variant671K → E in HEMA; severe. Ref.92
VAR_028456
Natural variant671K → N in HEMA. Ref.82
VAR_028457
Natural variant691L → P in HEMA; moderate-severe. Ref.76
VAR_028458
Natural variant721E → K in HEMA; moderate. Ref.94
VAR_017330
Natural variant751D → E in HEMA; moderate. Ref.51
VAR_028459
Natural variant751D → V.
Corresponds to variant rs1800288 [ dbSNP | Ensembl ].
VAR_001049
Natural variant751D → Y in HEMA; moderate-severe. Ref.76
VAR_028460
Natural variant831P → R in HEMA. Ref.100
VAR_065303
Natural variant84 – 852Missing in HEMA; severe.
VAR_028461
Natural variant851Missing in HEMA; moderate. Ref.92
VAR_028462
Natural variant891G → D in HEMA; severe. Ref.52 Ref.78
VAR_001050
Natural variant891G → V in HEMA; mild. Ref.45
VAR_001051
Natural variant921G → A in HEMA. Ref.81
VAR_028463
Natural variant921G → V in HEMA; mild. Ref.45
Corresponds to variant rs28935204 [ dbSNP | Ensembl ].
VAR_028464
Natural variant971A → P in HEMA. Ref.88
VAR_017331
Natural variant981E → K in HEMA; severe. Ref.58
VAR_028465
Natural variant991V → D in HEMA; severe. Ref.52 Ref.78
Corresponds to variant rs28935205 [ dbSNP | Ensembl ].
VAR_001052
Natural variant1011D → G in HEMA; severe. Ref.58
VAR_028466
Natural variant1011D → H in HEMA; severe sporadic. Ref.78
VAR_028467
Natural variant1011D → V in HEMA. Ref.52
VAR_028468
Natural variant1041V → D in HEMA; mild. Ref.45
Corresponds to variant rs28935206 [ dbSNP | Ensembl ].
VAR_001053
Natural variant1081K → T in HEMA; mild. Ref.38
Corresponds to variant rs28935207 [ dbSNP | Ensembl ].
VAR_001054
Natural variant1101M → V in HEMA; moderate. Ref.38
Corresponds to variant rs28936083 [ dbSNP | Ensembl ].
VAR_001055
Natural variant1111A → T in HEMA; severe. Ref.97
VAR_028469
Natural variant1111A → V in HEMA; moderate. Ref.89
VAR_028470
Natural variant1131H → R in HEMA; mild. Ref.49
VAR_028471
Natural variant1131H → Y in HEMA. Ref.70
VAR_028472
Natural variant1171L → F in HEMA; mild. Ref.82
VAR_028473
Natural variant1171L → R in HEMA; severe. Ref.52
Corresponds to variant rs28935208 [ dbSNP | Ensembl ].
VAR_001056
Natural variant1211G → S in HEMA. Ref.70
VAR_028474
Natural variant1291E → V in HEMA; severe. Ref.59
VAR_001057
Natural variant1301G → R in HEMA; severe.
VAR_001058
Natural variant1321E → D in HEMA; severe. Ref.61 Ref.80
Corresponds to variant rs28935209 [ dbSNP | Ensembl ].
VAR_001059
Natural variant1331Y → C in HEMA; mild. Ref.58
Corresponds to variant rs28935210 [ dbSNP | Ensembl ].
VAR_001060
Natural variant1351D → G in HEMA; severe. Ref.52
Corresponds to variant rs28935211 [ dbSNP | Ensembl ].
VAR_001061
Natural variant1351D → Y in HEMA; severe sporadic. Ref.78
VAR_028475
Natural variant1371T → A in HEMA; severe. Ref.82
VAR_028476
Natural variant1371T → I in HEMA; moderate.
VAR_001062
Natural variant1381S → R in HEMA; mild. Ref.89
VAR_028477
Natural variant1411E → K in HEMA; severe familial. Ref.80
VAR_028478
Natural variant1451D → H in HEMA; moderate. Ref.58
VAR_028479
Natural variant1471V → D in HEMA; severe. Ref.93
VAR_028480
Natural variant1551Y → H in HEMA; moderate. Ref.94
VAR_017332
Natural variant1591V → A in HEMA; moderate. Ref.58
VAR_028481
Natural variant1631N → K in HEMA; moderate. Ref.58
VAR_028482
Natural variant1641G → D in HEMA; moderate. Ref.58
VAR_028483
Natural variant1641G → V in HEMA; mild. Ref.45
Corresponds to variant rs28935212 [ dbSNP | Ensembl ].
VAR_001063
Natural variant1651P → S in HEMA; severe.
Corresponds to variant rs28935213 [ dbSNP | Ensembl ].
VAR_001064
Natural variant1721C → W in HEMA. Ref.70 Ref.91
VAR_028484
Natural variant1761S → P in HEMA. Ref.70
VAR_028485
Natural variant1791S → P in HEMA; moderate. Ref.58
VAR_028486
Natural variant1811V → E in HEMA; mild. Ref.94
VAR_017333
Natural variant1811V → M in HEMA; mild/moderate. Ref.45 Ref.51 Ref.58 Ref.70 Ref.83 Ref.92
VAR_001065
Natural variant1851K → T in HEMA; mild.
VAR_001066
Natural variant1861D → G in HEMA; mild. Ref.89
VAR_028487
Natural variant1861D → N in HEMA. Ref.100
VAR_065304
Natural variant1861D → Y in HEMA; severe. Ref.92
VAR_028488
Natural variant1891S → L in HEMA; moderate. Ref.28 Ref.53
VAR_001067
Natural variant1911L → F in HEMA. Ref.101
VAR_065305
Natural variant1931G → R in HEMA; severe familial. Ref.84
VAR_028489
Natural variant1951L → P in HEMA. Ref.100
VAR_065306
Natural variant1981C → G in HEMA; severe. Ref.87
VAR_028490
Natural variant2021S → N in HEMA; mild. Ref.49
VAR_028491
Natural variant2021S → R in HEMA; mild. Ref.69
VAR_008123
Natural variant2141F → V in HEMA. Ref.70
VAR_028492
Natural variant2171L → H in HEMA; moderate. Ref.50
VAR_028493
Natural variant2191A → D in HEMA. Ref.52
VAR_028494
Natural variant2191A → T in HEMA. Ref.70
VAR_028495
Natural variant2201V → G in HEMA; mild. Ref.92
VAR_028496
Natural variant2221D → V in HEMA; moderate.
VAR_001068
Natural variant2231E → K in HEMA; severe. Ref.65
VAR_028497
Natural variant2241G → W in HEMA; moderate.
VAR_001069
Natural variant2521T → I in HEMA; moderate. Ref.96
VAR_028498
Natural variant2531V → F in HEMA; severe. Ref.61
VAR_001070
Natural variant2541N → I in HEMA; severe. Ref.94
VAR_017334
Natural variant2551G → V in HEMA; severe. Ref.79
VAR_015127
Natural variant2611L → P in HEMA. Ref.100
VAR_065307
Natural variant2621P → L in HEMA; moderate. Ref.92
VAR_028499
Natural variant2631G → S in HEMA. Ref.53
VAR_028500
Natural variant2661G → E in HEMA; severe.
VAR_001071
Natural variant2671C → Y in HEMA; moderate. Ref.82
VAR_028501
Natural variant2741W → C in HEMA. Ref.56
Corresponds to variant rs34371500 [ dbSNP | Ensembl ].
VAR_028502
Natural variant2751H → L in HEMA; mild. Ref.49
VAR_028503
Natural variant2781G → R in HEMA; severe. Ref.52
VAR_001072
Natural variant2801G → D in HEMA. Ref.100
VAR_065308
Natural variant2841E → K in HEMA; moderate. Ref.89
VAR_028504
Natural variant2851V → G in HEMA; mild. Ref.38 Ref.49
VAR_001073
Natural variant2911E → G in HEMA; mild. Ref.25
VAR_001074
Natural variant2911E → K in HEMA; mild. Ref.41 Ref.58 Ref.70 Ref.91
VAR_028505
Natural variant2941T → I in HEMA; moderate.
VAR_001075
Natural variant2951F → L in HEMA; moderate. Ref.75
VAR_028506
Natural variant2971V → A in HEMA; mild. Ref.58
VAR_028507
Natural variant2991N → I in HEMA; mild. Ref.48 Ref.50
Corresponds to variant rs28935215 [ dbSNP | Ensembl ].
VAR_001076
Natural variant3011R → C in HEMA; severe/mild. Ref.49 Ref.82 Ref.91 Ref.93
VAR_028508
Natural variant3011R → H in HEMA; severe. Ref.38 Ref.68 Ref.69 Ref.82
Corresponds to variant rs28935216 [ dbSNP | Ensembl ].
VAR_001077
Natural variant3011R → L in HEMA; severe. Ref.52
VAR_001078
Natural variant3021Missing in HEMA. Ref.52
VAR_028509
Natural variant3031A → E in HEMA; mild. Ref.54 Ref.58
VAR_028510
Natural variant3031A → P in HEMA; mild. Ref.55
VAR_028511
Natural variant3071I → S in HEMA; moderate. Ref.75
VAR_028512
Natural variant3081S → L in HEMA; moderate. Ref.47 Ref.54 Ref.68
Corresponds to variant rs28937268 [ dbSNP | Ensembl ].
VAR_001079
Natural variant3121F → S in HEMA; mild/moderate. Ref.38 Ref.58
VAR_001080
Natural variant3141T → A in HEMA; mild. Ref.70
Corresponds to variant rs28937269 [ dbSNP | Ensembl ].
VAR_001081
Natural variant3141T → I in HEMA; moderate. Ref.61
VAR_001082
Natural variant3151A → V in HEMA. Ref.70
VAR_028513
Natural variant3201Missing in HEMA; severe.
VAR_028514
Natural variant3231G → E in HEMA; severe. Ref.79
VAR_015128
Natural variant3261L → P in HEMA. Ref.95
VAR_028515
Natural variant3271L → P in HEMA; severe. Ref.52 Ref.78
Corresponds to variant rs28937270 [ dbSNP | Ensembl ].
VAR_001083
Natural variant3271L → V in HEMA; mild. Ref.89
VAR_028516
Natural variant3291C → F in HEMA. Ref.95
VAR_028517
Natural variant3311I → V in HEMA; mild. Ref.61
VAR_001084
Natural variant3391M → T in HEMA; moderate. Ref.83
VAR_028518
Natural variant3401E → K in HEMA. Ref.70
VAR_028519
Natural variant3451V → A in HEMA. Ref.91
VAR_028520
Natural variant3451V → L in HEMA; severe. Ref.36
VAR_001085
Natural variant3481C → R in HEMA; severe. Ref.36
VAR_001086
Natural variant3481C → S in HEMA; moderate.
VAR_001087
Natural variant3481C → Y in HEMA; mild/severe. Ref.82
VAR_001088
Natural variant3651Y → C in HEMA; mild. Ref.89 Ref.98
VAR_028521
Natural variant3911R → C in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin. Ref.27 Ref.33 Ref.79 Ref.84
VAR_001089
Natural variant3911R → H in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin. Ref.30 Ref.47 Ref.58 Ref.91 Ref.95
Corresponds to variant rs28935499 [ dbSNP | Ensembl ].
VAR_001090
Natural variant3911R → P in HEMA; severe; abolishes the normal cleavage by thrombin.
VAR_001091
Natural variant3921S → L in HEMA; mild; abolishes normal cleavage by thrombin.
Corresponds to variant rs28933668 [ dbSNP | Ensembl ].
VAR_001092
Natural variant3921S → P in HEMA; mild.
Corresponds to variant rs28933669 [ dbSNP | Ensembl ].
VAR_001093
Natural variant3941A → S in HEMA. Ref.100
VAR_065309
Natural variant4011W → G in HEMA. Ref.95
VAR_028522
Natural variant4051I → F in HEMA. Ref.70
VAR_028523
Natural variant4051I → S in HEMA; severe.
Corresponds to variant rs28933670 [ dbSNP | Ensembl ].
VAR_001094
Natural variant4091E → G in HEMA; severe/moderate. Ref.78
Corresponds to variant rs28933671 [ dbSNP | Ensembl ].
VAR_001095
Natural variant4121W → G in HEMA. Ref.70
VAR_028524
Natural variant4121W → R in HEMA; severe. Ref.92
VAR_028525
Natural variant4271K → I in HEMA; mild. Ref.58
VAR_028526
Natural variant4311L → F in HEMA; moderate.
Corresponds to variant rs28933672 [ dbSNP | Ensembl ].
VAR_001096
Natural variant4311L → S in HEMA; moderate. Ref.89
VAR_028527
Natural variant4371R → P in HEMA; severe. Ref.89
VAR_028528
Natural variant4371R → W in HEMA; mild. Ref.58
VAR_028529
Natural variant4381I → F in HEMA; not severe. Ref.92
VAR_028530
Natural variant4391G → D in HEMA; severe. Ref.92
VAR_028531
Natural variant4391G → S in HEMA; moderate. Ref.94
VAR_017335
Natural variant4391G → V in HEMA; severe. Ref.64 Ref.91
VAR_001097
Natural variant4421Y → C in HEMA. Ref.91
VAR_028532
Natural variant4441K → R in HEMA; severe. Ref.38
Corresponds to variant rs28937272 [ dbSNP | Ensembl ].
VAR_001098
Natural variant4501Y → D in HEMA; severe. Ref.97
VAR_028533
Natural variant4501Y → N in HEMA; mild/moderate. Ref.48 Ref.50 Ref.58
Corresponds to variant rs28937273 [ dbSNP | Ensembl ].
VAR_001099
Natural variant4541T → I in HEMA; mild. Ref.58
VAR_028534
Natural variant4551F → C in HEMA; mild-moderate/severe. Ref.83 Ref.89
VAR_028535
Natural variant4661G → E in HEMA; severe sporadic. Ref.80
VAR_028536
Natural variant4701P → L in HEMA; mild. Ref.58 Ref.91
VAR_028537
Natural variant4701P → R in HEMA; mild. Ref.92
VAR_028538
Natural variant4701P → T in HEMA; mild sporadic. Ref.70 Ref.80 Ref.98
VAR_028539
Natural variant4741G → E in HEMA. Ref.70
VAR_028540
Natural variant4741G → R in HEMA; severe. Ref.61
VAR_001100
Natural variant4741G → V in HEMA. Ref.100
VAR_065310
Natural variant4751E → K in HEMA; moderate. Ref.82
VAR_028541
Natural variant4771G → V in HEMA; moderate. Ref.90
VAR_028542
Natural variant4781D → N in HEMA. Ref.70
VAR_028543
Natural variant4791T → R in HEMA.
VAR_028544
Natural variant4841F → C in HEMA. Ref.70
VAR_028545
Natural variant4881A → G in HEMA; moderate.
VAR_001101
Natural variant4901R → G in HEMA. Ref.70
VAR_028546
Natural variant4921Y → C in HEMA; moderate. Ref.56
Corresponds to variant rs28937275 [ dbSNP | Ensembl ].
VAR_001103
Natural variant4921Y → H in HEMA; mild. Ref.38
Corresponds to variant rs28937274 [ dbSNP | Ensembl ].
VAR_001102
Natural variant4941I → T in HEMA; mild.
Corresponds to variant rs28936968 [ dbSNP | Ensembl ].
VAR_001104
Natural variant4961P → R in HEMA. Ref.100
VAR_065311
Natural variant4981G → R in HEMA; severe/moderate. Ref.56 Ref.61 Ref.70 Ref.78
Corresponds to variant rs28936969 [ dbSNP | Ensembl ].
VAR_001105
Natural variant5031R → H in HEMA. Ref.80
Corresponds to variant rs35383156 [ dbSNP | Ensembl ].
VAR_028547
Natural variant5131G → S in HEMA; moderate. Ref.92
VAR_028548
Natural variant5131G → V in HEMA. Ref.100
VAR_065312
Natural variant5221I → Y in HEMA; requires 2 nucleotide substitutions. Ref.95
VAR_028549
Natural variant5291K → E in HEMA; moderate. Ref.94
VAR_017336
Natural variant5321W → G in HEMA. Ref.91
VAR_028550
Natural variant5401P → T in HEMA. Ref.95
VAR_028551
Natural variant5411T → S in HEMA; mild. Ref.58 Ref.92 Ref.98
VAR_028552
Natural variant5441D → N in HEMA; moderate.
Corresponds to variant rs28937276 [ dbSNP | Ensembl ].
VAR_001106
Natural variant5461R → W in HEMA; mild. Ref.47 Ref.50 Ref.55 Ref.58 Ref.70 Ref.83 Ref.95
Corresponds to variant rs28937277 [ dbSNP | Ensembl ].
VAR_001107
Natural variant5501R → C in HEMA; mild/moderate. Ref.45 Ref.58 Ref.70 Ref.79 Ref.84 Ref.92
Corresponds to variant rs28937278 [ dbSNP | Ensembl ].
VAR_001108
Natural variant5501R → G in HEMA; mild. Ref.62
VAR_001109
Natural variant5501R → H in HEMA; mild/moderate. Ref.54 Ref.55 Ref.56 Ref.58
Corresponds to variant rs28937279 [ dbSNP | Ensembl ].
VAR_001110
Natural variant5531S → P in HEMA; severe. Ref.58
VAR_028553
Natural variant5541S → C in HEMA; moderate. Ref.83
VAR_028554
Natural variant5541S → G in HEMA; mild. Ref.45 Ref.92
VAR_001111
Natural variant5561V → D in HEMA; moderate.
VAR_001112
Natural variant5601R → T in HEMA; mild. Ref.58
VAR_028555
Natural variant5611D → G in HEMA; severe. Ref.38
VAR_028556
Natural variant5611D → H in HEMA. Ref.70
VAR_028557
Natural variant5611D → Y in HEMA; severe. Ref.77 Ref.96
VAR_008967
Natural variant5671I → T in HEMA; mild. Ref.94
VAR_017337
Natural variant5691P → R in HEMA. Ref.100
VAR_065313
Natural variant5771S → F in HEMA; mild. Ref.47
VAR_001113
Natural variant5781V → A in HEMA; mild. Ref.58
VAR_028558
Natural variant5791D → A in HEMA; mild. Ref.82
VAR_028559
Natural variant5791D → H in HEMA; mild. Ref.89
VAR_028560
Natural variant5831N → S in HEMA; mild. Ref.92
VAR_028561
Natural variant5841Q → H in HEMA; mild. Ref.89
VAR_028562
Natural variant5841Q → K in HEMA; moderate.
VAR_001114
Natural variant5841Q → R in HEMA. Ref.70
VAR_028563
Natural variant5851I → R in HEMA; moderate-severe. Ref.76
VAR_028564
Natural variant5851I → T in HEMA; severe/moderate. Ref.70
VAR_001115
Natural variant5861M → V in HEMA; mild. Ref.79
VAR_015129
Natural variant5881D → G in HEMA. Ref.70
VAR_028565
Natural variant5881D → Y in HEMA. Ref.95
VAR_028566
Natural variant5941L → Q in HEMA; mild. Ref.92
VAR_028567
Natural variant5961S → P in HEMA; severe.
VAR_001116
Natural variant6011N → D in HEMA. Ref.70
VAR_028568
Natural variant6011N → K in HEMA. Ref.70
VAR_028569
Natural variant6021R → G in HEMA; mild familial. Ref.70 Ref.80 Ref.98
VAR_028570
Natural variant6031S → I in HEMA.
VAR_001117
Natural variant6031S → R in HEMA; severe. Ref.58 Ref.78
VAR_028571
Natural variant6041W → C in HEMA; severe.
VAR_001118
Natural variant6051Y → H in HEMA. Ref.70
VAR_028572
Natural variant6051Y → S in HEMA; severe.
VAR_001119
Natural variant6091N → I in HEMA; moderate. Ref.92
VAR_028573
Natural variant6121R → C in HEMA; mild/moderate; secretion impaired. Ref.38 Ref.45 Ref.50 Ref.66 Ref.70 Ref.73 Ref.82 Ref.84 Ref.92 Ref.93 Ref.97
VAR_001120
Natural variant6311N → K in HEMA; severe. Ref.59
VAR_001121
Natural variant6311N → S in HEMA.
VAR_001122
Natural variant6331M → I in HEMA; mild. Ref.58
VAR_028574
Natural variant6351S → N in HEMA; mild. Ref.92
VAR_028575
Natural variant6371N → D in HEMA; severe sporadic/moderate. Ref.49 Ref.78
VAR_028576
Natural variant6371N → I in HEMA. Ref.100
VAR_065314
Natural variant6371N → S in HEMA; mild; secretion impaired. Ref.73
VAR_028577
Natural variant6391Y → C in HEMA; moderate. Ref.57
VAR_028578
Natural variant6441L → V in HEMA; mild. Ref.61
VAR_001123
Natural variant6501L → F in HEMA; mild. Ref.89
VAR_028579
Natural variant6531V → A in HEMA; mild. Ref.47
VAR_001124
Natural variant6531V → M in HEMA; severe. Ref.47 Ref.91
VAR_001125
Natural variant6591L → P in HEMA. Ref.52
VAR_028580
Natural variant6631A → V in HEMA; mild.
VAR_001126
Natural variant6641Q → P in HEMA; moderate-severe. Ref.76
VAR_028581
Natural variant6711Missing in HEMA; severe. Ref.47
VAR_001127
Natural variant6771F → L in HEMA; moderate.
VAR_001128
Natural variant6811M → I in HEMA; mild. Ref.89
VAR_028582
Natural variant6821V → F in HEMA. Ref.66
VAR_028583
Natural variant6831Y → C in HEMA; severe. Ref.82 Ref.91 Ref.95
VAR_028584
Natural variant6831Y → N in HEMA; mild. Ref.58
VAR_028585
Natural variant6861T → R in HEMA. Ref.56
VAR_028586
Natural variant6981F → L in HEMA. Ref.82
VAR_028587
Natural variant6991M → T in HEMA; mild. Ref.92
VAR_028588
Natural variant6991M → V in HEMA; severe. Ref.61
VAR_001129
Natural variant7011M → I in HEMA; mild. Ref.92
VAR_028589
Natural variant7051G → V in HEMA; moderate. Ref.50
VAR_028590
Natural variant7101G → W in HEMA. Ref.82
VAR_028591
Natural variant7131N → I in HEMA; mild. Ref.74
VAR_028592
Natural variant7171R → L in HEMA; mild. Ref.54
VAR_028593
Natural variant7171R → W in HEMA; mild. Ref.45 Ref.54 Ref.70 Ref.98
VAR_001130
Natural variant7201G → D in HEMA; severe/moderate. Ref.51 Ref.61
VAR_001131
Natural variant7201G → S in HEMA. Ref.95
VAR_028594
Natural variant7211M → I in HEMA; severe. Ref.92
VAR_028595
Natural variant7211M → L in HEMA; mild. Ref.58
VAR_028596
Natural variant7231A → T in HEMA; moderate. Ref.38 Ref.62
VAR_001132
Natural variant7251L → Q in HEMA; severe. Ref.89
VAR_028597
Natural variant7271V → F in HEMA; severe. Ref.61
VAR_001133
Natural variant7391E → K in HEMA; mild.
Corresponds to variant rs28937285 [ dbSNP | Ensembl ].
VAR_001134
Natural variant7421Y → C in HEMA; mild. Ref.58
VAR_028598
Natural variant7951R → G.
Corresponds to variant rs2228152 [ dbSNP | Ensembl ].
VAR_024380
Natural variant9471P → R in HEMA. Ref.53
VAR_028599
Natural variant10121V → L in HEMA. Ref.52
VAR_028600
Natural variant10571E → K in HEMA; moderate. Ref.53
Corresponds to variant rs28933673 [ dbSNP | Ensembl ].
VAR_001135
Natural variant10661H → Y in HEMA. Ref.95
VAR_028601
Natural variant12601D → E. Ref.6 Ref.52 Ref.93
Corresponds to variant rs1800291 [ dbSNP | Ensembl ].
VAR_001136
Natural variant12891K → Q.
Corresponds to variant rs1800292 [ dbSNP | Ensembl ].
VAR_048438
Natural variant13361Q → K in HEMA. Ref.91
VAR_028602
Natural variant14601N → K in HEMA. Ref.47
VAR_028603
Natural variant14811L → P.
Corresponds to variant rs1800294 [ dbSNP | Ensembl ].
VAR_001137
Natural variant16101A → S in HEMA. Ref.53
VAR_028604
Natural variant16981I → T in HEMA; mild. Ref.58
VAR_028605
Natural variant16991Y → C in HEMA; severe.
VAR_001138
Natural variant16991Y → F in HEMA; moderate. Ref.34 Ref.38
Corresponds to variant rs28935203 [ dbSNP | Ensembl ].
VAR_001139
Natural variant17011E → K in HEMA; mild. Ref.98
VAR_028606
Natural variant17051Q → H in HEMA; mild sporadic. Ref.84
VAR_028607
Natural variant17081R → C in HEMA; East Hartford; severe/moderate/mild; abolishes thrombin cleavage at the light chain. Ref.26 Ref.31 Ref.34 Ref.40 Ref.50 Ref.52 Ref.56 Ref.70 Ref.79 Ref.82 Ref.98
VAR_001140
Natural variant17081R → H in HEMA; mild; abolishes thrombin cleavage at the light chain. Ref.40 Ref.91
Corresponds to variant rs28937286 [ dbSNP | Ensembl ].
VAR_001141
Natural variant17141T → S in HEMA; moderate. Ref.90
VAR_028608
Natural variant17151R → G in HEMA; mild. Ref.43 Ref.58
VAR_001142
Natural variant17201A → V in HEMA. Ref.100
VAR_065315
Natural variant17231E → K in HEMA; severe. Ref.37
VAR_001143
Natural variant17271D → V in HEMA; mild. Ref.89 Ref.98
VAR_028609
Natural variant17281Y → C in HEMA; moderate. Ref.35
VAR_001144
Natural variant17401R → G in HEMA; mild. Ref.89
VAR_028610
Natural variant17511K → Q in HEMA. Ref.70
VAR_028611
Natural variant17621F → L in HEMA. Ref.100
VAR_065316
Natural variant17681R → H in HEMA. Ref.95
VAR_028612
Natural variant17691G → R in HEMA; mild.
VAR_001145
Natural variant17711L → P in HEMA. Ref.95
VAR_028613
Natural variant17751L → F in HEMA; mild.
VAR_001147
Natural variant17751L → V in HEMA; moderate.
VAR_001146
Natural variant17771L → P in HEMA; moderate. Ref.90
VAR_028614
Natural variant17791G → E in HEMA; severe/moderate. Ref.76
VAR_001148
Natural variant17791G → R in HEMA; severe. Ref.58 Ref.92
VAR_028615
Natural variant17801P → L in HEMA; moderate. Ref.92
VAR_028616
Natural variant17821I → R in HEMA; severe sporadic. Ref.84
VAR_028617
Natural variant17881D → H in HEMA; mild. Ref.82
VAR_028618
Natural variant17911M → T in HEMA; severe. Ref.58 Ref.92
VAR_001149
Natural variant17981A → P in HEMA; severe. Ref.92
VAR_028619
Natural variant17991S → H in HEMA; requires 2 nucleotide substitutions.
VAR_028620
Natural variant18001R → C in HEMA; moderate. Ref.46 Ref.64 Ref.79
VAR_001151
Natural variant18001R → G in HEMA; mild.
VAR_001152
Natural variant18001R → H in HEMA; moderate/severe. Ref.38 Ref.57 Ref.58 Ref.59 Ref.70 Ref.92 Ref.95 Ref.97
VAR_001150
Natural variant18011P → A in HEMA; mild. Ref.58
VAR_028621
Natural variant18021Y → C in HEMA; moderate. Ref.70 Ref.97
VAR_028622
Natural variant18031S → Y in HEMA; severe. Ref.38
VAR_001153
Natural variant18041F → S in HEMA; severe. Ref.94
VAR_017338
Natural variant18081L → F in HEMA; mild. Ref.45 Ref.49
VAR_001154
Natural variant18421M → I in HEMA; moderate.
Corresponds to variant rs28933674 [ dbSNP | Ensembl ].
VAR_001155
Natural variant18441P → S in HEMA; mild.
Corresponds to variant rs28933675 [ dbSNP | Ensembl ].
VAR_001156
Natural variant18451T → P in HEMA; mild. Ref.42
Corresponds to variant rs28933676 [ dbSNP | Ensembl ].
VAR_001157
Natural variant18481E → G in HEMA; mild. Ref.92
VAR_028623
Natural variant18531A → T in HEMA; moderate/severe. Ref.51 Ref.70 Ref.80
VAR_001158
Natural variant18531A → V in HEMA; mild.
Corresponds to variant rs28933677 [ dbSNP | Ensembl ].
VAR_001159
Natural variant18581S → C in HEMA; moderate. Ref.89
VAR_028624
Natural variant18641K → E in HEMA. Ref.70
VAR_028625
Natural variant18651D → N in HEMA; severe. Ref.52
VAR_001160
Natural variant18651D → Y in HEMA; severe.
VAR_001161
Natural variant18671H → P in HEMA; mild. Ref.49
VAR_028626
Natural variant18671H → R in HEMA; moderate.
Corresponds to variant rs28933679 [ dbSNP | Ensembl ].
VAR_001162
Natural variant18691G → D in HEMA; severe. Ref.89
VAR_028627
Natural variant18691G → V in HEMA; severe. Ref.77 Ref.96
VAR_001163
Natural variant18721G → E in HEMA; severe sporadic. Ref.84
VAR_028628
Natural variant18731P → R in HEMA; severe. Ref.52
Corresponds to variant rs28933680 [ dbSNP | Ensembl ].
VAR_001164
Natural variant18751L → P in HEMA. Ref.91
VAR_028629
Natural variant18761V → L in HEMA; mild. Ref.82
VAR_028630
Natural variant18771C → R in HEMA. Ref.91
VAR_028631
Natural variant18771C → Y in HEMA. Ref.101
VAR_065317
Natural variant18821L → P in HEMA. Ref.70
VAR_028632
Natural variant18881R → I in HEMA; severe. Ref.51 Ref.70 Ref.98
VAR_001165
Natural variant18941E → G in HEMA; moderate. Ref.62 Ref.78
VAR_001166
Natural variant19011I → F in HEMA; mild. Ref.58
VAR_028633
Natural variant19041E → D in HEMA. Ref.95
VAR_028634
Natural variant19041E → K in HEMA; severe.
Corresponds to variant rs28933681 [ dbSNP | Ensembl ].
VAR_001167
Natural variant19071S → C in HEMA; moderate. Ref.92
VAR_028635
Natural variant19071S → R in HEMA; severe. Ref.92
VAR_028636
Natural variant19081W → L in HEMA; mild. Ref.57
VAR_028637
Natural variant19091Y → C in HEMA; moderate. Ref.75
VAR_028638
Natural variant19391A → T in HEMA; severe. Ref.92
VAR_028639
Natural variant19391A → V in HEMA; unknown pathological significance. Ref.92
VAR_028640
Natural variant19411N → D in HEMA; severe/moderate. Ref.35 Ref.38
VAR_001168
Natural variant19411N → S in HEMA; severe/moderate. Ref.38 Ref.45
Corresponds to variant rs28933682 [ dbSNP | Ensembl ].
VAR_001169
Natural variant19421G → A in HEMA; moderate. Ref.79
VAR_015130
Natural variant19451M → V in HEMA; moderate. Ref.93
VAR_028641
Natural variant19511L → F in HEMA; mild. Ref.54
VAR_028642
Natural variant19601R → L in HEMA; moderate. Ref.44
VAR_001171
Natural variant19601R → Q in HEMA; mild/moderate. Ref.41 Ref.49 Ref.56 Ref.58
Corresponds to variant rs28937294 [ dbSNP | Ensembl ].
VAR_001170
Natural variant19631L → P in HEMA; severe. Ref.79
VAR_015131
Natural variant19651S → I in HEMA. Ref.91
VAR_028643
Natural variant19661M → I in HEMA; mild. Ref.55
VAR_028644
Natural variant19661M → V in HEMA; mild. Ref.98
VAR_028645
Natural variant19671G → D in HEMA; moderate.
Corresponds to variant rs28937295 [ dbSNP | Ensembl ].
VAR_001172
Natural variant19681S → R in HEMA; mild. Ref.89
VAR_028646
Natural variant19711N → T in HEMA. Ref.52
VAR_028647
Natural variant19731H → L in HEMA; mild. Ref.67 Ref.70
VAR_028648
Natural variant19791G → V in HEMA; moderate.
VAR_001173
Natural variant19801H → P in HEMA. Ref.95
VAR_028649
Natural variant19801H → Y in HEMA; mild.
VAR_001174
Natural variant19821F → I in HEMA; mild. Ref.92
VAR_028650
Natural variant19851R → Q in HEMA; mild. Ref.58 Ref.80 Ref.92
VAR_028651
Natural variant19941L → P in HEMA; moderate. Ref.99
VAR_028652
Natural variant19981Y → C in HEMA; mild. Ref.89
VAR_028653
Natural variant20001G → A in HEMA; moderate-severe. Ref.76
VAR_028654
Natural variant20041T → R in HEMA; sporadic. Ref.80
VAR_028655
Natural variant20071M → I in HEMA; mild. Ref.58
VAR_028656
Natural variant20131G → R in HEMA. Ref.101
VAR_065318
Natural variant20151W → C in HEMA; moderate. Ref.92
VAR_028657
Natural variant20161R → P in HEMA; severe familial. Ref.84
VAR_028658
Natural variant20161R → W in HEMA; severe/moderate/mild. Ref.50 Ref.52 Ref.58 Ref.70 Ref.80 Ref.82 Ref.84 Ref.92 Ref.98
VAR_001175
Natural variant20181E → G in HEMA; moderate. Ref.98
VAR_028659
Natural variant20221G → D in HEMA; severe. Ref.58
VAR_028660
Natural variant20281G → R in HEMA. Ref.66
VAR_028661
Natural variant20301S → N in HEMA; mild. Ref.58
VAR_028662
Natural variant20351V → A in HEMA. Ref.70
VAR_028663
Natural variant20361Y → C in HEMA; moderate. Ref.79
VAR_015132
Natural variant20381N → S in HEMA; mild/moderate. Ref.58 Ref.92
VAR_001176
Natural variant20401C → Y in HEMA. Ref.70
VAR_028664
Natural variant20451G → E in HEMA; mild. Ref.82
VAR_028665
Natural variant20451G → V in HEMA; severe sporadic. Ref.65 Ref.78
VAR_028666
Natural variant20511I → S in HEMA; severe. Ref.94
VAR_017339
Natural variant20561I → N in HEMA; severe. Ref.89
VAR_028667
Natural variant20581A → P in HEMA; moderate. Ref.75
VAR_028668
Natural variant20651W → R in HEMA; moderate. Ref.45
VAR_001177
Natural variant20671P → L in HEMA; severe sporadic. Ref.78 Ref.98
VAR_028669
Natural variant20701A → V in HEMA; mild. Ref.89
VAR_028670
Natural variant20821S → N in HEMA; severe. Ref.89
VAR_028671
Natural variant20881S → F in HEMA; severe.
VAR_001178
Natural variant20931D → G in HEMA; mild.
VAR_001179
Natural variant20931D → Y in HEMA; severe familial. Ref.80
VAR_028672
Natural variant21011H → D in HEMA. Ref.100
VAR_065319
Natural variant21051T → N in HEMA; moderate. Ref.61
VAR_001180
Natural variant21061Q → E in HEMA; mild. Ref.72
VAR_028673
Natural variant21061Q → P in HEMA. Ref.100
VAR_065320
Natural variant21061Q → R in HEMA; mild. Ref.57
VAR_028674
Natural variant21071G → S in HEMA; severe. Ref.62
VAR_001181
Natural variant21091R → C in HEMA; mild. Ref.72
VAR_028675
Natural variant21171I → F in HEMA. Ref.91
VAR_028676
Natural variant21171I → S in HEMA; mild-moderate; affinity for VWF reduced 8-fold. Ref.71
VAR_028677
Natural variant21191Q → R in HEMA; moderate. Ref.50
VAR_028678
Natural variant21201F → C in HEMA. Ref.70
VAR_028679
Natural variant21201F → L in HEMA; mild.
VAR_001182
Natural variant21241Y → C in HEMA; mild. Ref.66 Ref.79
VAR_001183
Natural variant21351R → P in HEMA; severe. Ref.23
VAR_001184
Natural variant21381S → Y in HEMA; moderate; affinity for VWF reduced 80-fold. Ref.71
VAR_001185
Natural variant21411T → N in HEMA; severe. Ref.94
VAR_017340
Natural variant21431M → V in HEMA. Ref.100
VAR_065321
Natural variant21451F → C in HEMA; mild. Ref.70 Ref.89
VAR_028680
Natural variant21481N → S in HEMA; moderate. Ref.71
VAR_001186
Natural variant21571N → D in HEMA; mild. Ref.89
VAR_028681
Natural variant21621P → L in HEMA; severe. Ref.98
VAR_028682
Natural variant21691R → C in HEMA; mild. Ref.72 Ref.95
VAR_028683
Natural variant21691R → H in HEMA; severe/mild; affinity for VWF reducced 3-fold. Ref.38 Ref.45 Ref.49 Ref.53 Ref.56 Ref.64 Ref.66 Ref.68 Ref.70 Ref.71 Ref.76 Ref.80 Ref.84 Ref.92 Ref.95
VAR_001187
Natural variant21721P → L in HEMA. Ref.100
VAR_065322
Natural variant21721P → Q in HEMA; moderate. Ref.71
VAR_001188
Natural variant21721P → R in HEMA; severe. Ref.78 Ref.79
VAR_015133
Natural variant21731T → A in HEMA; mild. Ref.89
VAR_028684
Natural variant21731T → I in HEMA; mild. Ref.46
VAR_001189
Natural variant21741H → D in HEMA. Ref.95
VAR_028685
Natural variant21781R → C in HEMA; mild/moderate. Ref.45 Ref.47 Ref.49 Ref.56 Ref.70 Ref.72 Ref.82 Ref.83 Ref.93 Ref.95
VAR_001190
Natural variant21781R → H in HEMA; mild. Ref.95
VAR_001191
Natural variant21781R → L in HEMA; mild.
VAR_001192
Natural variant21821R → C in HEMA; severe/moderate. Ref.72 Ref.78 Ref.79 Ref.82 Ref.91 Ref.95
VAR_001193
Natural variant21821R → H in HEMA; severe/moderate. Ref.60 Ref.64 Ref.66 Ref.70 Ref.80 Ref.82 Ref.84 Ref.98
VAR_001194
Natural variant21821R → P in HEMA; moderate/severe. Ref.82
VAR_028686
Natural variant21831M → R in HEMA; moderate. Ref.72
VAR_028687
Natural variant21831M → V in HEMA; mild. Ref.70
VAR_001195
Natural variant21851L → S in HEMA; severe. Ref.78
VAR_001196
Natural variant21851L → W in HEMA. Ref.91
VAR_028688
Natural variant21921S → I in HEMA; mild. Ref.72 Ref.92
VAR_028689
Natural variant21931C → G in HEMA. Ref.88
VAR_017341
Natural variant21961P → R in HEMA.
VAR_028690
Natural variant21981G → V in HEMA; severe sporadic. Ref.70 Ref.80
VAR_028691
Natural variant22001E → D in HEMA. Ref.66
VAR_028692
Natural variant22041I → T in HEMA; mild. Ref.62
VAR_001197
Natural variant22091I → N in HEMA; moderate.
VAR_001198
Natural variant22111A → P in HEMA; moderate.
VAR_001199
Natural variant22201A → P in HEMA; mild. Ref.72
VAR_028693
Natural variant22231Missing in HEMA; severe/moderate.
VAR_001200
Natural variant22241P → L in HEMA. Ref.91
VAR_028695
Natural variant22241Missing in HEMA; moderate. Ref.42
VAR_028694
Natural variant22281R → G in HEMA; severe. Ref.95
VAR_001201
Natural variant22281R → L in HEMA; moderate.
VAR_001202
Natural variant22281R → P in HEMA; moderate-severe. Ref.76
VAR_028696
Natural variant22281R → Q in HEMA; severe/moderate. Ref.24 Ref.32 Ref.38 Ref.52 Ref.68 Ref.75 Ref.79 Ref.80
VAR_001203
Natural variant22291L → F in HEMA. Ref.95
VAR_028697
Natural variant22421V → M. Ref.53
VAR_001204
Natural variant22481W → C in HEMA; moderate. Ref.45 Ref.66 Ref.70
VAR_001205
Natural variant22481W → S in HEMA; moderate. Ref.96
VAR_028698
Natural variant22511V → A in HEMA; mild. Ref.72 Ref.97
VAR_028699
Natural variant22511V → E in HEMA. Ref.91
VAR_028700
Natural variant22571M → V. Ref.6 Ref.49 Ref.65
Corresponds to variant rs1800297 [ dbSNP | Ensembl ].
VAR_021356
Natural variant22621V → VQ in HEMA; moderate. Ref.94
VAR_017342
Natural variant22641T → A in HEMA. Ref.56
VAR_028701
Natural variant22651Q → R in HEMA; moderate.
VAR_001206
Natural variant22791F → C in HEMA; severe sporadic. Ref.65 Ref.78
VAR_028702
Natural variant22791F → I in HEMA. Ref.66
VAR_028703
Natural variant22811I → T in HEMA; severe. Ref.49
VAR_028704
Natural variant22861D → G in HEMA. Ref.100
VAR_065323
Natural variant22901W → L in HEMA. Ref.91
VAR_028705
Natural variant23041G → V in HEMA. Ref.56
VAR_028706
Natural variant23071D → A in HEMA; moderate/mild. Ref.79 Ref.82
VAR_015134
Natural variant23191P → L in HEMA; mild/severe. Ref.72 Ref.78 Ref.95
VAR_001207
Natural variant23191P → S in HEMA; mild. Ref.37 Ref.64
VAR_001208
Natural variant23231R → C in HEMA; severe/moderate; may cause reduced phospholipid binding. Ref.38 Ref.72 Ref.91 Ref.95
VAR_001209
Natural variant23231R → G in HEMA; moderate. Ref.72
VAR_028707
Natural variant23231R → H in HEMA; mild; may cause reduced phospholipid binding. Ref.95
VAR_001210
Natural variant23231R → L in HEMA; mild. Ref.82
VAR_028708
Natural variant23261R → G in HEMA. Ref.70
VAR_028709
Natural variant23261R → L in HEMA; severe/moderate; may cause reduced phospholipid binding. Ref.29 Ref.32 Ref.52 Ref.78 Ref.92
VAR_001211
Natural variant23261R → P in HEMA; severe sporadic. Ref.78 Ref.83
VAR_028710
Natural variant23261R → Q in HEMA; moderate/mild; may cause reduced phospholipid binding. Ref.22 Ref.68 Ref.72 Ref.93
VAR_001212
Natural variant23301Q → P in HEMA; severe. Ref.89 Ref.90
VAR_028711
Natural variant23321W → R in HEMA; severe. Ref.75
VAR_028712
Natural variant23361I → F in HEMA. Ref.100
VAR_065324
Natural variant23391R → T in HEMA; moderate. Ref.72
VAR_028713
Natural variant23441G → C in HEMA; moderate. Ref.77 Ref.96
VAR_008968
Natural variant23441G → D in HEMA. Ref.101
VAR_065325
Natural variant23441G → S in HEMA. Ref.52
VAR_028714
Natural variant23451C → S in HEMA. Ref.95
VAR_028715
Natural variant23451C → Y in HEMA. Ref.91
VAR_028716

Experimental info

Sequence conflict7681P → R in CAA25619. Ref.2
Sequence conflict19221C → S in AAA52420. Ref.5

Secondary structure

........................... 2351
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 21, 1986. Version 1.
Checksum: 75FB6A2955C74CB0

FASTA2,351267,009
        10         20         30         40         50         60 
MQIELSTCFF LCLLRFCFSA TRRYYLGAVE LSWDYMQSDL GELPVDARFP PRVPKSFPFN 

        70         80         90        100        110        120 
TSVVYKKTLF VEFTDHLFNI AKPRPPWMGL LGPTIQAEVY DTVVITLKNM ASHPVSLHAV 

       130        140        150        160        170        180 
GVSYWKASEG AEYDDQTSQR EKEDDKVFPG GSHTYVWQVL KENGPMASDP LCLTYSYLSH 

       190        200        210        220        230        240 
VDLVKDLNSG LIGALLVCRE GSLAKEKTQT LHKFILLFAV FDEGKSWHSE TKNSLMQDRD 

       250        260        270        280        290        300 
AASARAWPKM HTVNGYVNRS LPGLIGCHRK SVYWHVIGMG TTPEVHSIFL EGHTFLVRNH 

       310        320        330        340        350        360 
RQASLEISPI TFLTAQTLLM DLGQFLLFCH ISSHQHDGME AYVKVDSCPE EPQLRMKNNE 

       370        380        390        400        410        420 
EAEDYDDDLT DSEMDVVRFD DDNSPSFIQI RSVAKKHPKT WVHYIAAEEE DWDYAPLVLA 

       430        440        450        460        470        480 
PDDRSYKSQY LNNGPQRIGR KYKKVRFMAY TDETFKTREA IQHESGILGP LLYGEVGDTL 

       490        500        510        520        530        540 
LIIFKNQASR PYNIYPHGIT DVRPLYSRRL PKGVKHLKDF PILPGEIFKY KWTVTVEDGP 

       550        560        570        580        590        600 
TKSDPRCLTR YYSSFVNMER DLASGLIGPL LICYKESVDQ RGNQIMSDKR NVILFSVFDE 

       610        620        630        640        650        660 
NRSWYLTENI QRFLPNPAGV QLEDPEFQAS NIMHSINGYV FDSLQLSVCL HEVAYWYILS 

       670        680        690        700        710        720 
IGAQTDFLSV FFSGYTFKHK MVYEDTLTLF PFSGETVFMS MENPGLWILG CHNSDFRNRG 

       730        740        750        760        770        780 
MTALLKVSSC DKNTGDYYED SYEDISAYLL SKNNAIEPRS FSQNSRHPST RQKQFNATTI 

       790        800        810        820        830        840 
PENDIEKTDP WFAHRTPMPK IQNVSSSDLL MLLRQSPTPH GLSLSDLQEA KYETFSDDPS 

       850        860        870        880        890        900 
PGAIDSNNSL SEMTHFRPQL HHSGDMVFTP ESGLQLRLNE KLGTTAATEL KKLDFKVSST 

       910        920        930        940        950        960 
SNNLISTIPS DNLAAGTDNT SSLGPPSMPV HYDSQLDTTL FGKKSSPLTE SGGPLSLSEE 

       970        980        990       1000       1010       1020 
NNDSKLLESG LMNSQESSWG KNVSSTESGR LFKGKRAHGP ALLTKDNALF KVSISLLKTN 

      1030       1040       1050       1060       1070       1080 
KTSNNSATNR KTHIDGPSLL IENSPSVWQN ILESDTEFKK VTPLIHDRML MDKNATALRL 

      1090       1100       1110       1120       1130       1140 
NHMSNKTTSS KNMEMVQQKK EGPIPPDAQN PDMSFFKMLF LPESARWIQR THGKNSLNSG 

      1150       1160       1170       1180       1190       1200 
QGPSPKQLVS LGPEKSVEGQ NFLSEKNKVV VGKGEFTKDV GLKEMVFPSS RNLFLTNLDN 

      1210       1220       1230       1240       1250       1260 
LHENNTHNQE KKIQEEIEKK ETLIQENVVL PQIHTVTGTK NFMKNLFLLS TRQNVEGSYD 

      1270       1280       1290       1300       1310       1320 
GAYAPVLQDF RSLNDSTNRT KKHTAHFSKK GEEENLEGLG NQTKQIVEKY ACTTRISPNT 

      1330       1340       1350       1360       1370       1380 
SQQNFVTQRS KRALKQFRLP LEETELEKRI IVDDTSTQWS KNMKHLTPST LTQIDYNEKE 

      1390       1400       1410       1420       1430       1440 
KGAITQSPLS DCLTRSHSIP QANRSPLPIA KVSSFPSIRP IYLTRVLFQD NSSHLPAASY 

      1450       1460       1470       1480       1490       1500 
RKKDSGVQES SHFLQGAKKN NLSLAILTLE MTGDQREVGS LGTSATNSVT YKKVENTVLP 

      1510       1520       1530       1540       1550       1560 
KPDLPKTSGK VELLPKVHIY QKDLFPTETS NGSPGHLDLV EGSLLQGTEG AIKWNEANRP 

      1570       1580       1590       1600       1610       1620 
GKVPFLRVAT ESSAKTPSKL LDPLAWDNHY GTQIPKEEWK SQEKSPEKTA FKKKDTILSL 

      1630       1640       1650       1660       1670       1680 
NACESNHAIA AINEGQNKPE IEVTWAKQGR TERLCSQNPP VLKRHQREIT RTTLQSDQEE 

      1690       1700       1710       1720       1730       1740 
IDYDDTISVE MKKEDFDIYD EDENQSPRSF QKKTRHYFIA AVERLWDYGM SSSPHVLRNR 

      1750       1760       1770       1780       1790       1800 
AQSGSVPQFK KVVFQEFTDG SFTQPLYRGE LNEHLGLLGP YIRAEVEDNI MVTFRNQASR 

      1810       1820       1830       1840       1850       1860 
PYSFYSSLIS YEEDQRQGAE PRKNFVKPNE TKTYFWKVQH HMAPTKDEFD CKAWAYFSDV 

      1870       1880       1890       1900       1910       1920 
DLEKDVHSGL IGPLLVCHTN TLNPAHGRQV TVQEFALFFT IFDETKSWYF TENMERNCRA 

      1930       1940       1950       1960       1970       1980 
PCNIQMEDPT FKENYRFHAI NGYIMDTLPG LVMAQDQRIR WYLLSMGSNE NIHSIHFSGH 

      1990       2000       2010       2020       2030       2040 
VFTVRKKEEY KMALYNLYPG VFETVEMLPS KAGIWRVECL IGEHLHAGMS TLFLVYSNKC 

      2050       2060       2070       2080       2090       2100 
QTPLGMASGH IRDFQITASG QYGQWAPKLA RLHYSGSINA WSTKEPFSWI KVDLLAPMII 

      2110       2120       2130       2140       2150       2160 
HGIKTQGARQ KFSSLYISQF IIMYSLDGKK WQTYRGNSTG TLMVFFGNVD SSGIKHNIFN 

      2170       2180       2190       2200       2210       2220 
PPIIARYIRL HPTHYSIRST LRMELMGCDL NSCSMPLGME SKAISDAQIT ASSYFTNMFA 

      2230       2240       2250       2260       2270       2280 
TWSPSKARLH LQGRSNAWRP QVNNPKEWLQ VDFQKTMKVT GVTTQGVKSL LTSMYVKEFL 

      2290       2300       2310       2320       2330       2340 
ISSSQDGHQW TLFFQNGKVK VFQGNQDSFT PVVNSLDPPL LTRYLRIHPQ SWVHQIALRM 

      2350 
EVLGCEAQDL Y 

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Isoform 2 (F8B) [UniParc].

Checksum: 6C82D4F89E35A376
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FASTA21624,641

References

« Hide 'large scale' references
[1]"Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA."
Truett M.A., Blacher R., Burke R.L., Caput D., Chu C., Dina D., Hartog K., Kuo C.H., Masiarz F.R., Merryweather J.P., Najarian R., Pachl C., Potter S.J., Puma J., Quiroga M., Rall L.B., Randolph A., Urdea M.S. expand/collapse author list , Valenzuela P., Dahl H.-H.M., Favalaro J., Hansen J., Nordfang O., Ezban M.
DNA 4:333-349(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Expression of active human factor VIII from recombinant DNA clones."
Wood W.I., Capon D.J., Simonsen C.C., Eaton D.L., Gitschier J., Keyt B., Seeburg P.H., Smith D.H., Hollingshead P., Wion K.L., Delwart E., Tuddenham E.G.D., Vehar G.A., Lawn R.M.
Nature 312:330-337(1984) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Evidence for a third transcript from the human factor VIII gene."
Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J.
Genomics 14:585-589(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
[4]"Molecular cloning of a cDNA encoding human antihaemophilic factor."
Toole J.J., Knopf J.L., Wozney J.M., Sultzman L.A., Buecker J.L., Pittman D.D., Kaufman R.J., Brown E., Shoemaker C., Orr E.C., Amphlett G.W., Foster W.B., Coe M.L., Knutson G.J., Fass D.N., Hewick R.M.
Nature 312:342-347(1984) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"Sequence of the exon-containing regions of the human factor VIII gene."
Gitschier J., Wood W.I.
Hum. Mol. Genet. 1:199-200(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]SeattleSNPs variation discovery resource
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLU-1260 AND VAL-2257.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Hippocampus and Kidney.
[8]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[11]"Factor VIII gene normal intron 20 sequence."
de Water N.S., Williams R., Browett P.J.
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2064-2070.
[12]"Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis."
Severs J.C., Carnine M., Eguizabal H., Mock K.K.
Rapid Commun. Mass Spectrom. 13:1016-1023(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 356-378; 727-752 AND 1672-1708, MASS SPECTROMETRY, SULFATION AT TYR-365; TYR-737; TYR-738; TYR-742; TYR-1683 AND TYR-1699.
[13]"Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor."
Leyte A., van Schijndel H.B., Niehrs C., Huttner W.B., Verbeet M.P., Mertens K., van Mourik J.A.
J. Biol. Chem. 266:740-746(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: SULFATION AT TYR-1699.
[14]"Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII."
Pittman D.D., Wang J.H., Kaufman R.J.
Biochemistry 31:3315-3325(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: SULFATION AT TYR-365; TYR-1683 AND TYR-1699, INTERACTION WITH VWF.
[15]"The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor."
Saenko E.L., Scandella D.
J. Biol. Chem. 272:18007-18014(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH VWF.
[16]"Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A)."
McMullen B.A., Fujikawa K., Davie E.W., Hedner U., Ezban M.
Protein Sci. 4:740-746(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: DISULFIDE BONDS.
[17]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601.
Tissue: Plasma.
[18]"Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy."
Gilbert G.E., Baleja J.D.
Biochemistry 34:3022-3031(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 2322-2343.
[19]"The molecular basis of hemophilia A."
Gitschier J.
Ann. N. Y. Acad. Sci. 614:89-96(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON MOLECULAR BASIS OF HEMA.
[20]"Factor VIII gene and hemophilia A."
White G.C. II, Shoemaker C.B.
Blood 73:1-12(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON MOLECULAR BASIS OF HEMA.
[21]"Molecular etiology of factor VIII deficiency in hemophilia A."
Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D.
Hum. Mutat. 5:1-22(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON MOLECULAR BASIS OF HEMA.
[22]"Identification of a missense mutation in the factor VIII gene of a mild hemophiliac."
Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.
Science 232:1415-1416(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLN-2326.
[23]"A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences."
Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.
Nucleic Acids Res. 15:9797-9805(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA PRO-2135.
[24]"Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides."
Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.
Am. J. Hum. Genet. 42:718-725(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLN-2228.
[25]"Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene."
Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.
Am. J. Hum. Genet. 42:867-871(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-291.
[26]"Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A."
O'Brien D.P., Tuddenham E.G.
Blood 73:2117-2122(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-1708.
[27]"An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule."
Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.
Blood 74:1612-1617(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-391.
[28]"A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A."
Chan V., Chan T.K., Tong T.M., Todd D.
Blood 74:2688-2691(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-189.
[29]"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene."
Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.
Hum. Genet. 81:335-338(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-2326.
[30]"Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine)."
Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA HIS-391.
[31]"Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A."
Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.
Blood 75:384-389(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-1708.
[32]"Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent."
Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.
Blood 75:662-670(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLN-2228 AND LEU-2326.
[33]"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site."
Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.
Br. J. Haematol. 75:73-77(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-391.
[34]"Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA."
Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 6:65-71(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PHE-1699 AND CYS-1708.
[35]"Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene."
Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.
Genomics 6:293-301(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1728 AND ASP-1941.
[36]"Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis."
Kogan S., Gitschier J.
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-345 AND ARG-348.
[37]"Identification of mutations in two families with sporadic hemophilia A."
Paynton C., Sarkar G., Sommer S.S.
Hum. Genet. 87:397-400(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-1723 AND SER-2319.
[38]"Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene."
Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323.
[39]"Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis."
Higuchi M., Antonarakis S.E., Kasch L., Oldenburg J., Economou-Petersen E., Olek K., Arai M., Inaba H., Kazazian H.H. Jr.
Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS.
[40]"Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain."
Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.
Thromb. Res. 61:225-234(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1708 AND HIS-1708.
[41]"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin."
Krepelova A., Vorlova Z., Acquila M., Mori P.
Br. J. Haematol. 81:458-458(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-291 AND GLN-1960.
[42]"Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)."
Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 13:909-911(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-1845 AND PRO-2224 DEL.
[43]"Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection."
Reiner A.P., Thompson A.R.
Hum. Genet. 89:88-94(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-1715.
[44]"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A."
Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.
Hum. Mutat. 1:77-78(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-1960.
[45]"Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A."
Diamond C., Kogan S., Levinson B., Gitschier J.
Hum. Mutat. 1:248-257(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550; GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178 AND CYS-2248.
[46]"Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis."
Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.
Hum. Mutat. 1:506-508(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1800 AND ILE-2173.
[47]"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A."
McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.
Genomics 15:392-398(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178.
[48]"Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene."
Pieneman W.C., Reitsma P.H., Briet E.
Thromb. Haemost. 69:473-475(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ILE-299 AND ASN-450.
[49]"Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients."
Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.
Blood 86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281, VARIANT VAL-2257.
[50]"Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients."
Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.
Br. J. Haematol. 90:442-449(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705; CYS-1708; TRP-2016 AND ARG-2119.
[51]"Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype."
Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.
Hum. Genet. 95:531-538(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888.
[52]"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies."
Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.
Am. J. Hum. Genet. 58:657-670(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344.
[53]"Molecular characterization of haemophilia A in southern Chinese."
Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.
Br. J. Haematol. 93:451-456(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169, VARIANT MET-2242.
[54]"Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods."
Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.
Br. J. Haematol. 94:400-406(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951.
[55]"Mutations in the FVIII gene in seven families with mild haemophilia A."
Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.
Br. J. Haematol. 96:426-427(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966.
[56]"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism."
Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.
Br. J. Haematol. 98:901-906(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304.
[57]"Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations."
Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Genet. 100:508-511(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106.
[58]"A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins."
Liu M., Murphy M.E.P., Thompson A.R.
Br. J. Haematol. 103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038.
[59]"Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts."
Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C., Demaille J., Claustres M.
Hum. Mutat. 11:18-22(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800.
[60]"Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes."
Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H.
Hum. Mutat. 11:334-334(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA HIS-2182.
[61]"Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene."
Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J., Cassiman J.-J., Matthijs G.
Hum. Mutat. 11:470-479(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105.
[62]"Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)."
Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.
Hum. Mutat. Suppl. 1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204.
[63]"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping."
Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.
Hum. Mutat. 12:301-303(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA.
[64]"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene."
Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.
Hum. Mutat. 12:393-402(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319.
[65]"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis."
Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G., Wright J., Peake I.R., Goodeve A.C.
Thromb. Haemost. 79:723-726(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, VARIANT VAL-2257.
[66]"Factor VIII inhibitors in mild and moderate-severity haemophilia A."
UK haemophilia centre directors organisation
Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.
Thromb. Haemost. 79:762-766(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279.
[67]"Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain."
Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.
Br. J. Haematol. 105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-1973.
[68]"Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum."
Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.
Hum. Mutat. 13:413-413(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326.
[69]"Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation."
Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Mutat. 13:504-504(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-202 AND HIS-301.
[70]"Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch."
The haemophilia centres
Waseem N.H., Bagnall R., Green P.M., Giannelli F.
Thromb. Haemost. 81:900-905(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326.
[71]"A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor."
Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.
Blood 96:958-965(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169.
[72]"Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure."
Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.
Blood 96:979-987(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339.
[73]"Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A."
Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.
Br. J. Haematol. 108:241-246(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-612 AND SER-637, CHARACTERIZATION OF VARIANTS HEMA CYS-612 AND SER-637.
[74]"Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family."
Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.
Br. J. Haematol. 109:523-528(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA ILE-713.
[75]"Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis."
Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.
Haematologica 85:525-529(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332.
[76]"Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)."
Recombinate PUP study group
Goodeve A.C., Williams I., Bray G.L., Peake I.R.
Thromb. Haemost. 83:844-848(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000; HIS-2169 AND PRO-2228.
[77]"Mutations of the factor VIII gene in Thai hemophilia A patients."
Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.
Hum. Mutat. 15:117-118(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344.
[78]"Somatic mosaicism in hemophilia A: a fairly common event."
Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.
Am. J. Hum. Genet. 69:75-87(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498; ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182; SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326.
[79]"Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data."
Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.
Br. J. Haematol. 112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307.
[80]"Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A."
Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.
Haemophilia 7:381-391(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228.
[81]"Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation."
Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.
Haemophilia 7:419-421(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA ALA-92.
[82]"Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations."
Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K., Caglayan S.H.
Haemophilia 7:475-481(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323.
[83]"Seven novel and four recurrent point mutations in the factor VIII (F8C) gene."
Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A., Horst J.
Hum. Mutat. 18:546-546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326.
[84]"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations."
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.
Thromb. Haemost. 85:580-583(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182.
[85]Erratum
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.
Thromb. Haemost. 86:727-727(2001)
[86]"Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A."
Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M., Negrier C.
Blood 100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-35.
[87]"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.
Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-198.
[88]"Three novel point mutations causing haemophilia A."
Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S., Efremov G.D.
Haemophilia 8:715-718(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-97 AND GLY-2193.
[89]"The identification and classification of 41 novel mutations in the factor VIII gene (F8C)."
Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.
Hum. Mutat. 19:274-278(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330.
[90]"Identification of seven novel mutations of F8C by DHPLC."
Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G., Morfini M., Torricelli F.
Hum. Mutat. 20:231-232(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330.
[91]"High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation."
Citron M., Godmilow L., Ganguly T., Ganguly A.
Hum. Mutat. 20:267-274(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439; CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875; ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251; LEU-2290; CYS-2323 AND TYR-2345.
[92]"Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses."
Liu M.-L., Nakaya S., Thompson A.R.
Thromb. Haemost. 87:273-276(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326.
[93]"11 hemophilia A patients without mutations in the factor VIII encoding gene."
Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.
Thromb. Haemost. 88:357-360(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326, VARIANT GLU-1260.
[94]"Analysis of 18 novel mutations in the factor VIII gene."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.
Br. J. Haematol. 122:810-817(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS.
[95]"Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions."
Habart D., Kalabova D., Novotny M., Vorlova Z.
J. Thromb. Haemost. 1:773-781(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345.
[96]"Genotype and phenotype of haemophilia A in Thai patients."
Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.
Haemophilia 9:179-186(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344.
[97]"Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.
Am. J. Hematol. 78:117-122(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251.
[98]"Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype."
Hill M., Deam S., Gordon B., Dolan G.
Haemophilia 11:133-141(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067; LEU-2162 AND HIS-2182.
[99]"Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII."
Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.
J. Thromb. Haemost. 4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA PRO-1994.
[100]"Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites."
Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.
Blood 111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-83; ASN-186; PRO-195; PRO-261; ASP-280; SER-394; VAL-474; ARG-496; VAL-513; ARG-569; ILE-637; VAL-1720; LEU-1762; ASP-2101; PRO-2106; VAL-2143; LEU-2172; GLY-2286 AND PHE-2336.
[101]"Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations."
Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.
Haemophilia 17:913-918(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344.
+Additional computationally mapped references.

Web resources

Wikipedia

Factor VIII entry

HAMSters

Factor VIII mutation db

GeneReviews
SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M14113 mRNA. Translation: AAA52485.1.
X01179 mRNA. Translation: CAA25619.1.
M90707 mRNA. Translation: AAA58466.1.
K01740 mRNA. Translation: AAA52484.1.
M88648 expand/collapse EMBL AC list , M88628, M88629, M88630, M88631, M88632, M88633, M88634, M88635, M88636, M88638, M88639, M88640, M88641, M88642, M88643, M88644, M88645, M88646, M88647 Genomic DNA. Translation: AAA52420.1.
AY769950 Genomic DNA. Translation: AAV85964.1.
AK289947 mRNA. Translation: BAF82636.1.
AK313707 mRNA. Translation: BAG36452.1.
BX470111 expand/collapse EMBL AC list , AC109993, BX842559, BX842564, BX890586 Genomic DNA. Translation: CAI41660.1.
BX842564 expand/collapse EMBL AC list , AC109993, BX470111, BX842559, BX890586 Genomic DNA. Translation: CAI41666.1.
BX842559 expand/collapse EMBL AC list , AC109993, BX470111, BX842564, BX890586 Genomic DNA. Translation: CAI41672.1.
BX890586 expand/collapse EMBL AC list , AC109993, BX470111, BX842559, BX842564 Genomic DNA. Translation: CAI43241.1.
BX842559, AC109993 Genomic DNA. Translation: CAO03404.1.
CH471172 Genomic DNA. Translation: EAW72645.1.
BC022513 mRNA. Translation: AAH22513.1.
BC064380 mRNA. Translation: AAH64380.1.
BC098389 mRNA. Translation: AAH98389.1.
BC111967 mRNA. Translation: AAI11968.1.
BC111969 mRNA. Translation: AAI11970.1.
U80228 Genomic DNA. Translation: AAB61261.1.
PIREZHU. I54318.
RefSeqNP_000123.1. NM_000132.3.
NP_063916.1. NM_019863.2.
UniGeneHs.632836.
Hs.654450.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1CFGNMR-A2322-2343[»]
1D7PX-ray1.50M2190-2348[»]
1FACNMR-A2322-2342[»]
1IQDX-ray2.00C2193-2348[»]
2R7EX-ray3.70A19-760[»]
B1582-2351[»]
3CDZX-ray3.98A20-764[»]
B1668-2351[»]
3HNBX-ray1.15M2189-2347[»]
3HNYX-ray1.07M2189-2347[»]
3HOBX-ray2.07A/M2189-2347[»]
3J2Qelectron microscopy15.00A20-764[»]
B1668-2351[»]
3J2Selectron microscopy15.00B1710-2351[»]
4BDVX-ray3.98A20-769[»]
B1667-2351[»]
4KI5X-ray2.47M2190-2351[»]
ProteinModelPortalP00451.
SMRP00451. Positions 20-762, 1708-2351.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108455. 9 interactions.
DIPDIP-29774N.
IntActP00451. 3 interactions.
MINTMINT-202317.
STRING9606.ENSP00000353393.

Chemistry

BindingDBP00451.
ChEMBLCHEMBL3143.
DrugBankDB00025. Antihemophilic Factor.
DB00100. Coagulation Factor IX.
DB00055. Drotrecogin alfa.
GuidetoPHARMACOLOGY2607.

Protein family/group databases

Allergome9868. Hom s Factor VIII.

PTM databases

PhosphoSiteP00451.
UniCarbKBP00451.

Polymorphism databases

DMDM119767.

Proteomic databases

PaxDbP00451.
PRIDEP00451.

Protocols and materials databases

DNASU2157.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000330287; ENSP00000327895; ENSG00000185010. [P00451-2]
ENST00000360256; ENSP00000353393; ENSG00000185010. [P00451-1]
ENST00000593499; ENSP00000470213; ENSG00000269261. [P00451-2]
ENST00000601201; ENSP00000471364; ENSG00000269261. [P00451-1]
GeneID2157.
KEGGhsa:2157.
UCSCuc004fms.3. human. [P00451-2]
uc004fmt.3. human. [P00451-1]

Organism-specific databases

CTD2157.
GeneCardsGC0XM154064.
HGNCHGNC:3546. F8.
HPACAB018777.
MIM134500. phenotype.
300841. gene.
306700. phenotype.
neXtProtNX_P00451.
Orphanet169808. Mild hemophilia A.
169805. Moderately severe hemophilia A.
169802. Severe hemophilia A.
177926. Symptomatic form of hemophilia A in female carriers.
PharmGKBPA27952.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG151351.
HOGENOMHOG000231686.
HOVERGENHBG106657.
InParanoidP00451.
KOK03899.
OMAWHVIGMG.
PhylomeDBP00451.
TreeFamTF329807.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressP00451.
BgeeP00451.
CleanExHS_F8.
GenevestigatorP00451.

Family and domain databases

Gene3D2.60.120.260. 2 hits.
2.60.40.420. 6 hits.
InterProIPR000421. Coagulation_fac_5/8-C_type_dom.
IPR001117. Cu-oxidase.
IPR011706. Cu-oxidase_2.
IPR011707. Cu-oxidase_3.
IPR002355. Cu_oxidase_Cu_BS.
IPR008972. Cupredoxin.
IPR024715. Factor_5/8.
IPR008979. Galactose-bd-like.
[Graphical view]
PfamPF00394. Cu-oxidase. 1 hit.
PF07731. Cu-oxidase_2. 1 hit.
PF07732. Cu-oxidase_3. 2 hits.
PF00754. F5_F8_type_C. 2 hits.
[Graphical view]
PIRSFPIRSF000354. Factors_V_VIII. 1 hit.
SMARTSM00231. FA58C. 2 hits.
[Graphical view]
SUPFAMSSF49503. SSF49503. 6 hits.
SSF49785. SSF49785. 2 hits.
PROSITEPS01285. FA58C_1. 2 hits.
PS01286. FA58C_2. 2 hits.
PS50022. FA58C_3. 2 hits.
PS00079. MULTICOPPER_OXIDASE1. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP00451.
GeneWikiFactor_VIII.
GenomeRNAi2157.
NextBio8713.
PROP00451.
SOURCESearch...

Entry information

Entry nameFA8_HUMAN
AccessionPrimary (citable) accession number: P00451
Secondary accession number(s): Q14286, Q5HY69
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: April 16, 2014
This is version 195 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM