Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P00451

- FA8_HUMAN

UniProt

P00451 - FA8_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Coagulation factor VIII

Gene

F8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei391 – 3922Cleavage; by thrombin
Sitei759 – 7602Cleavage; by thrombin
Sitei1332 – 13332Cleavage (activation)
Sitei1667 – 16682Cleavage (activation)
Sitei1708 – 17092Cleavage; by thrombin

GO - Molecular functioni

  1. copper ion binding Source: InterPro
  2. oxidoreductase activity Source: InterPro
  3. serine-type endopeptidase activity Source: Ensembl

GO - Biological processi

  1. acute-phase response Source: UniProtKB-KW
  2. blood coagulation Source: Reactome
  3. blood coagulation, intrinsic pathway Source: Reactome
  4. cell adhesion Source: InterPro
  5. platelet activation Source: Reactome
  6. platelet degranulation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Acute phase, Blood coagulation, Hemostasis

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_326. Intrinsic Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Coagulation factor VIII
Alternative name(s):
Antihemophilic factor
Short name:
AHF
Procoagulant component
Cleaved into the following 4 chains:
Gene namesi
Name:F8
Synonyms:F8C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:3546. F8.

Subcellular locationi

GO - Cellular componenti

  1. extracellular region Source: UniProtKB
  2. extracellular space Source: Ensembl
  3. plasma membrane Source: Reactome
  4. platelet alpha granule lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.78 Publications
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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191S → R in HEMA. 1 Publication
VAR_028447
Natural varianti22 – 221R → T in HEMA; severe. 1 Publication
VAR_028448
Natural varianti24 – 241Y → C in HEMA. 1 Publication
VAR_028449
Natural varianti25 – 251Y → C in HEMA; mild. 1 Publication
VAR_028450
Natural varianti26 – 261L → P in HEMA; severe. 1 Publication
VAR_028451
Natural varianti26 – 261L → R in HEMA; severe. 3 Publications
VAR_001045
Natural varianti30 – 301E → V in HEMA; mild. 1 Publication
VAR_001046
Natural varianti33 – 331W → G in HEMA; moderate. 1 Publication
VAR_028452
Natural varianti35 – 351Y → C in HEMA; mild/severe. 1 Publication
VAR_028453
Natural varianti35 – 351Y → H in HEMA; severe. 1 Publication
VAR_028454
Natural varianti41 – 411G → C in HEMA; severe/moderate.
VAR_001047
Natural varianti48 – 481R → C in HEMA; severe.
VAR_001048
Natural varianti48 – 481R → K in HEMA. 1 Publication
VAR_028455
Natural varianti67 – 671K → E in HEMA; severe. 1 Publication
VAR_028456
Natural varianti67 – 671K → N in HEMA. 1 Publication
VAR_028457
Natural varianti69 – 691L → P in HEMA; moderate-severe. 1 Publication
VAR_028458
Natural varianti72 – 721E → K in HEMA; moderate. 1 Publication
VAR_017330
Natural varianti75 – 751D → E in HEMA; moderate. 1 Publication
VAR_028459
Natural varianti75 – 751D → Y in HEMA; moderate-severe. 1 Publication
VAR_028460
Natural varianti83 – 831P → R in HEMA. 1 Publication
VAR_065303
Natural varianti84 – 852Missing in HEMA; severe. 1 Publication
VAR_028461
Natural varianti85 – 851Missing in HEMA; moderate. 1 Publication
VAR_028462
Natural varianti89 – 891G → D in HEMA; severe. 2 Publications
VAR_001050
Natural varianti89 – 891G → V in HEMA; mild. 1 Publication
VAR_001051
Natural varianti92 – 921G → A in HEMA. 1 Publication
VAR_028463
Natural varianti92 – 921G → V in HEMA; mild. 1 Publication
Corresponds to variant rs28935204 [ dbSNP | Ensembl ].
VAR_028464
Natural varianti97 – 971A → P in HEMA. 1 Publication
VAR_017331
Natural varianti98 – 981E → K in HEMA; severe. 1 Publication
VAR_028465
Natural varianti99 – 991V → D in HEMA; severe. 2 Publications
Corresponds to variant rs28935205 [ dbSNP | Ensembl ].
VAR_001052
Natural varianti101 – 1011D → G in HEMA; severe. 1 Publication
VAR_028466
Natural varianti101 – 1011D → H in HEMA; severe sporadic. 1 Publication
VAR_028467
Natural varianti101 – 1011D → V in HEMA. 1 Publication
VAR_028468
Natural varianti104 – 1041V → D in HEMA; mild. 1 Publication
Corresponds to variant rs28935206 [ dbSNP | Ensembl ].
VAR_001053
Natural varianti108 – 1081K → T in HEMA; mild. 1 Publication
Corresponds to variant rs28935207 [ dbSNP | Ensembl ].
VAR_001054
Natural varianti110 – 1101M → V in HEMA; moderate. 1 Publication
Corresponds to variant rs28936083 [ dbSNP | Ensembl ].
VAR_001055
Natural varianti111 – 1111A → T in HEMA; severe. 1 Publication
VAR_028469
Natural varianti111 – 1111A → V in HEMA; moderate. 1 Publication
VAR_028470
Natural varianti113 – 1131H → R in HEMA; mild. 1 Publication
VAR_028471
Natural varianti113 – 1131H → Y in HEMA. 1 Publication
VAR_028472
Natural varianti117 – 1171L → F in HEMA; mild. 1 Publication
VAR_028473
Natural varianti117 – 1171L → R in HEMA; severe. 1 Publication
Corresponds to variant rs28935208 [ dbSNP | Ensembl ].
VAR_001056
Natural varianti121 – 1211G → S in HEMA. 1 Publication
VAR_028474
Natural varianti129 – 1291E → V in HEMA; severe. 1 Publication
VAR_001057
Natural varianti130 – 1301G → R in HEMA; severe.
VAR_001058
Natural varianti132 – 1321E → D in HEMA; severe. 2 Publications
Corresponds to variant rs28935209 [ dbSNP | Ensembl ].
VAR_001059
Natural varianti133 – 1331Y → C in HEMA; mild. 1 Publication
Corresponds to variant rs28935210 [ dbSNP | Ensembl ].
VAR_001060
Natural varianti135 – 1351D → G in HEMA; severe. 1 Publication
Corresponds to variant rs28935211 [ dbSNP | Ensembl ].
VAR_001061
Natural varianti135 – 1351D → Y in HEMA; severe sporadic. 1 Publication
VAR_028475
Natural varianti137 – 1371T → A in HEMA; severe. 1 Publication
VAR_028476
Natural varianti137 – 1371T → I in HEMA; moderate.
VAR_001062
Natural varianti138 – 1381S → R in HEMA; mild. 1 Publication
VAR_028477
Natural varianti141 – 1411E → K in HEMA; severe familial. 1 Publication
VAR_028478
Natural varianti145 – 1451D → H in HEMA; moderate. 1 Publication
VAR_028479
Natural varianti147 – 1471V → D in HEMA; severe. 1 Publication
VAR_028480
Natural varianti155 – 1551Y → H in HEMA; moderate. 1 Publication
VAR_017332
Natural varianti159 – 1591V → A in HEMA; moderate. 1 Publication
VAR_028481
Natural varianti163 – 1631N → K in HEMA; moderate. 1 Publication
VAR_028482
Natural varianti164 – 1641G → D in HEMA; moderate. 1 Publication
VAR_028483
Natural varianti164 – 1641G → V in HEMA; mild. 1 Publication
Corresponds to variant rs28935212 [ dbSNP | Ensembl ].
VAR_001063
Natural varianti165 – 1651P → S in HEMA; severe.
Corresponds to variant rs28935213 [ dbSNP | Ensembl ].
VAR_001064
Natural varianti172 – 1721C → W in HEMA. 2 Publications
VAR_028484
Natural varianti176 – 1761S → P in HEMA. 1 Publication
VAR_028485
Natural varianti179 – 1791S → P in HEMA; moderate. 1 Publication
VAR_028486
Natural varianti181 – 1811V → E in HEMA; mild. 1 Publication
VAR_017333
Natural varianti181 – 1811V → M in HEMA; mild/moderate. 6 Publications
VAR_001065
Natural varianti185 – 1851K → T in HEMA; mild.
VAR_001066
Natural varianti186 – 1861D → G in HEMA; mild. 1 Publication
VAR_028487
Natural varianti186 – 1861D → N in HEMA. 1 Publication
VAR_065304
Natural varianti186 – 1861D → Y in HEMA; severe. 1 Publication
VAR_028488
Natural varianti189 – 1891S → L in HEMA; moderate. 2 Publications
VAR_001067
Natural varianti191 – 1911L → F in HEMA. 1 Publication
VAR_065305
Natural varianti193 – 1931G → R in HEMA; severe familial. 1 Publication
VAR_028489
Natural varianti195 – 1951L → P in HEMA. 1 Publication
VAR_065306
Natural varianti198 – 1981C → G in HEMA; severe. 1 Publication
VAR_028490
Natural varianti202 – 2021S → N in HEMA; mild. 1 Publication
VAR_028491
Natural varianti202 – 2021S → R in HEMA; mild. 1 Publication
VAR_008123
Natural varianti214 – 2141F → V in HEMA. 1 Publication
VAR_028492
Natural varianti217 – 2171L → H in HEMA; moderate. 1 Publication
VAR_028493
Natural varianti219 – 2191A → D in HEMA. 1 Publication
VAR_028494
Natural varianti219 – 2191A → T in HEMA. 1 Publication
VAR_028495
Natural varianti220 – 2201V → G in HEMA; mild. 1 Publication
VAR_028496
Natural varianti222 – 2221D → V in HEMA; moderate.
VAR_001068
Natural varianti223 – 2231E → K in HEMA; severe. 1 Publication
VAR_028497
Natural varianti224 – 2241G → W in HEMA; moderate.
VAR_001069
Natural varianti252 – 2521T → I in HEMA; moderate. 1 Publication
VAR_028498
Natural varianti253 – 2531V → F in HEMA; severe. 1 Publication
VAR_001070
Natural varianti254 – 2541N → I in HEMA; severe. 1 Publication
VAR_017334
Natural varianti255 – 2551G → V in HEMA; severe. 1 Publication
VAR_015127
Natural varianti261 – 2611L → P in HEMA. 1 Publication
VAR_065307
Natural varianti262 – 2621P → L in HEMA; moderate. 1 Publication
VAR_028499
Natural varianti263 – 2631G → S in HEMA. 1 Publication
VAR_028500
Natural varianti266 – 2661G → E in HEMA; severe.
VAR_001071
Natural varianti267 – 2671C → Y in HEMA; moderate. 1 Publication
VAR_028501
Natural varianti274 – 2741W → C in HEMA. 1 Publication
Corresponds to variant rs34371500 [ dbSNP | Ensembl ].
VAR_028502
Natural varianti275 – 2751H → L in HEMA; mild. 1 Publication
VAR_028503
Natural varianti278 – 2781G → R in HEMA; severe. 1 Publication
VAR_001072
Natural varianti280 – 2801G → D in HEMA. 1 Publication
VAR_065308
Natural varianti284 – 2841E → K in HEMA; moderate. 1 Publication
VAR_028504
Natural varianti285 – 2851V → G in HEMA; mild. 2 Publications
VAR_001073
Natural varianti291 – 2911E → G in HEMA; mild. 1 Publication
VAR_001074
Natural varianti291 – 2911E → K in HEMA; mild. 4 Publications
VAR_028505
Natural varianti294 – 2941T → I in HEMA; moderate.
VAR_001075
Natural varianti295 – 2951F → L in HEMA; moderate. 1 Publication
VAR_028506
Natural varianti297 – 2971V → A in HEMA; mild. 1 Publication
VAR_028507
Natural varianti299 – 2991N → I in HEMA; mild. 2 Publications
Corresponds to variant rs28935215 [ dbSNP | Ensembl ].
VAR_001076
Natural varianti301 – 3011R → C in HEMA; severe/mild. 4 Publications
VAR_028508
Natural varianti301 – 3011R → H in HEMA; severe. 4 Publications
Corresponds to variant rs28935216 [ dbSNP | Ensembl ].
VAR_001077
Natural varianti301 – 3011R → L in HEMA; severe. 1 Publication
VAR_001078
Natural varianti302 – 3021Missing in HEMA. 1 Publication
VAR_028509
Natural varianti303 – 3031A → E in HEMA; mild. 2 Publications
VAR_028510
Natural varianti303 – 3031A → P in HEMA; mild. 1 Publication
VAR_028511
Natural varianti307 – 3071I → S in HEMA; moderate. 1 Publication
VAR_028512
Natural varianti308 – 3081S → L in HEMA; moderate. 3 Publications
Corresponds to variant rs28937268 [ dbSNP | Ensembl ].
VAR_001079
Natural varianti312 – 3121F → S in HEMA; mild/moderate. 2 Publications
VAR_001080
Natural varianti314 – 3141T → A in HEMA; mild. 1 Publication
Corresponds to variant rs28937269 [ dbSNP | Ensembl ].
VAR_001081
Natural varianti314 – 3141T → I in HEMA; moderate. 1 Publication
VAR_001082
Natural varianti315 – 3151A → V in HEMA. 1 Publication
VAR_028513
Natural varianti320 – 3201Missing in HEMA; severe.
VAR_028514
Natural varianti323 – 3231G → E in HEMA; severe. 1 Publication
VAR_015128
Natural varianti326 – 3261L → P in HEMA. 1 Publication
VAR_028515
Natural varianti327 – 3271L → P in HEMA; severe. 2 Publications
Corresponds to variant rs28937270 [ dbSNP | Ensembl ].
VAR_001083
Natural varianti327 – 3271L → V in HEMA; mild. 1 Publication
VAR_028516
Natural varianti329 – 3291C → F in HEMA. 1 Publication
VAR_028517
Natural varianti331 – 3311I → V in HEMA; mild. 1 Publication
VAR_001084
Natural varianti339 – 3391M → T in HEMA; moderate. 1 Publication
VAR_028518
Natural varianti340 – 3401E → K in HEMA. 1 Publication
VAR_028519
Natural varianti345 – 3451V → A in HEMA. 1 Publication
VAR_028520
Natural varianti345 – 3451V → L in HEMA; severe. 1 Publication
VAR_001085
Natural varianti348 – 3481C → R in HEMA; severe. 1 Publication
VAR_001086
Natural varianti348 – 3481C → S in HEMA; moderate.
VAR_001087
Natural varianti348 – 3481C → Y in HEMA; mild/severe. 1 Publication
VAR_001088
Natural varianti365 – 3651Y → C in HEMA; mild. 2 Publications
VAR_028521
Natural varianti391 – 3911R → C in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin. 4 Publications
VAR_001089
Natural varianti391 – 3911R → H in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin. 5 Publications
Corresponds to variant rs28935499 [ dbSNP | Ensembl ].
VAR_001090
Natural varianti391 – 3911R → P in HEMA; severe; abolishes the normal cleavage by thrombin.
VAR_001091
Natural varianti392 – 3921S → L in HEMA; mild; abolishes normal cleavage by thrombin.
Corresponds to variant rs28933668 [ dbSNP | Ensembl ].
VAR_001092
Natural varianti392 – 3921S → P in HEMA; mild.
Corresponds to variant rs28933669 [ dbSNP | Ensembl ].
VAR_001093
Natural varianti394 – 3941A → S in HEMA. 1 Publication
VAR_065309
Natural varianti401 – 4011W → G in HEMA. 1 Publication
VAR_028522
Natural varianti405 – 4051I → F in HEMA. 1 Publication
VAR_028523
Natural varianti405 – 4051I → S in HEMA; severe.
Corresponds to variant rs28933670 [ dbSNP | Ensembl ].
VAR_001094
Natural varianti409 – 4091E → G in HEMA; severe/moderate. 1 Publication
Corresponds to variant rs28933671 [ dbSNP | Ensembl ].
VAR_001095
Natural varianti412 – 4121W → G in HEMA. 1 Publication
VAR_028524
Natural varianti412 – 4121W → R in HEMA; severe. 1 Publication
VAR_028525
Natural varianti427 – 4271K → I in HEMA; mild. 1 Publication
VAR_028526
Natural varianti431 – 4311L → F in HEMA; moderate.
Corresponds to variant rs28933672 [ dbSNP | Ensembl ].
VAR_001096
Natural varianti431 – 4311L → S in HEMA; moderate. 1 Publication
VAR_028527
Natural varianti437 – 4371R → P in HEMA; severe. 1 Publication
VAR_028528
Natural varianti437 – 4371R → W in HEMA; mild. 1 Publication
VAR_028529
Natural varianti438 – 4381I → F in HEMA; not severe. 1 Publication
VAR_028530
Natural varianti439 – 4391G → D in HEMA; severe. 1 Publication
VAR_028531
Natural varianti439 – 4391G → S in HEMA; moderate. 1 Publication
VAR_017335
Natural varianti439 – 4391G → V in HEMA; severe. 2 Publications
VAR_001097
Natural varianti442 – 4421Y → C in HEMA. 1 Publication
VAR_028532
Natural varianti444 – 4441K → R in HEMA; severe. 1 Publication
Corresponds to variant rs28937272 [ dbSNP | Ensembl ].
VAR_001098
Natural varianti450 – 4501Y → D in HEMA; severe. 1 Publication
VAR_028533
Natural varianti450 – 4501Y → N in HEMA; mild/moderate. 3 Publications
Corresponds to variant rs28937273 [ dbSNP | Ensembl ].
VAR_001099
Natural varianti454 – 4541T → I in HEMA; mild. 1 Publication
VAR_028534
Natural varianti455 – 4551F → C in HEMA; mild-moderate/severe. 2 Publications
VAR_028535
Natural varianti466 – 4661G → E in HEMA; severe sporadic. 1 Publication
VAR_028536
Natural varianti470 – 4701P → L in HEMA; mild. 2 Publications
VAR_028537
Natural varianti470 – 4701P → R in HEMA; mild. 1 Publication
VAR_028538
Natural varianti470 – 4701P → T in HEMA; mild sporadic. 3 Publications
VAR_028539
Natural varianti474 – 4741G → E in HEMA. 1 Publication
VAR_028540
Natural varianti474 – 4741G → R in HEMA; severe. 1 Publication
VAR_001100
Natural varianti474 – 4741G → V in HEMA. 1 Publication
VAR_065310
Natural varianti475 – 4751E → K in HEMA; moderate. 1 Publication
VAR_028541
Natural varianti477 – 4771G → V in HEMA; moderate. 1 Publication
VAR_028542
Natural varianti478 – 4781D → N in HEMA. 1 Publication
VAR_028543
Natural varianti479 – 4791T → R in HEMA.
VAR_028544
Natural varianti484 – 4841F → C in HEMA. 1 Publication
VAR_028545
Natural varianti488 – 4881A → G in HEMA; moderate.
VAR_001101
Natural varianti490 – 4901R → G in HEMA. 1 Publication
VAR_028546
Natural varianti492 – 4921Y → C in HEMA; moderate. 1 Publication
Corresponds to variant rs28937275 [ dbSNP | Ensembl ].
VAR_001103
Natural varianti492 – 4921Y → H in HEMA; mild. 1 Publication
Corresponds to variant rs28937274 [ dbSNP | Ensembl ].
VAR_001102
Natural varianti494 – 4941I → T in HEMA; mild.
Corresponds to variant rs28936968 [ dbSNP | Ensembl ].
VAR_001104
Natural varianti496 – 4961P → R in HEMA. 1 Publication
VAR_065311
Natural varianti498 – 4981G → R in HEMA; severe/moderate. 4 Publications
Corresponds to variant rs28936969 [ dbSNP | Ensembl ].
VAR_001105
Natural varianti503 – 5031R → H in HEMA. 1 Publication
Corresponds to variant rs35383156 [ dbSNP | Ensembl ].
VAR_028547
Natural varianti513 – 5131G → S in HEMA; moderate. 1 Publication
VAR_028548
Natural varianti513 – 5131G → V in HEMA. 1 Publication
VAR_065312
Natural varianti522 – 5221I → Y in HEMA; requires 2 nucleotide substitutions. 1 Publication
VAR_028549
Natural varianti529 – 5291K → E in HEMA; moderate. 1 Publication
VAR_017336
Natural varianti532 – 5321W → G in HEMA. 1 Publication
VAR_028550
Natural varianti540 – 5401P → T in HEMA. 1 Publication
VAR_028551
Natural varianti541 – 5411T → S in HEMA; mild. 3 Publications
VAR_028552
Natural varianti544 – 5441D → N in HEMA; moderate.
Corresponds to variant rs28937276 [ dbSNP | Ensembl ].
VAR_001106
Natural varianti546 – 5461R → W in HEMA; mild. 7 Publications
Corresponds to variant rs28937277 [ dbSNP | Ensembl ].
VAR_001107
Natural varianti550 – 5501R → C in HEMA; mild/moderate. 6 Publications
Corresponds to variant rs28937278 [ dbSNP | Ensembl ].
VAR_001108
Natural varianti550 – 5501R → G in HEMA; mild. 1 Publication
VAR_001109
Natural varianti550 – 5501R → H in HEMA; mild/moderate. 4 Publications
Corresponds to variant rs28937279 [ dbSNP | Ensembl ].
VAR_001110
Natural varianti553 – 5531S → P in HEMA; severe. 1 Publication
VAR_028553
Natural varianti554 – 5541S → C in HEMA; moderate. 1 Publication
VAR_028554
Natural varianti554 – 5541S → G in HEMA; mild. 2 Publications
VAR_001111
Natural varianti556 – 5561V → D in HEMA; moderate.
VAR_001112
Natural varianti560 – 5601R → T in HEMA; mild. 1 Publication
VAR_028555
Natural varianti561 – 5611D → G in HEMA; severe. 1 Publication
VAR_028556
Natural varianti561 – 5611D → H in HEMA. 1 Publication
VAR_028557
Natural varianti561 – 5611D → Y in HEMA; severe. 2 Publications
VAR_008967
Natural varianti567 – 5671I → T in HEMA; mild. 1 Publication
VAR_017337
Natural varianti569 – 5691P → R in HEMA. 1 Publication
VAR_065313
Natural varianti577 – 5771S → F in HEMA; mild. 1 Publication
VAR_001113
Natural varianti578 – 5781V → A in HEMA; mild. 1 Publication
VAR_028558
Natural varianti579 – 5791D → A in HEMA; mild. 1 Publication
VAR_028559
Natural varianti579 – 5791D → H in HEMA; mild. 1 Publication
VAR_028560
Natural varianti583 – 5831N → S in HEMA; mild. 1 Publication
VAR_028561
Natural varianti584 – 5841Q → H in HEMA; mild. 1 Publication
VAR_028562
Natural varianti584 – 5841Q → K in HEMA; moderate.
VAR_001114
Natural varianti584 – 5841Q → R in HEMA. 1 Publication
VAR_028563
Natural varianti585 – 5851I → R in HEMA; moderate-severe. 1 Publication
VAR_028564
Natural varianti585 – 5851I → T in HEMA; severe/moderate. 1 Publication
VAR_001115
Natural varianti586 – 5861M → V in HEMA; mild. 1 Publication
VAR_015129
Natural varianti588 – 5881D → G in HEMA. 1 Publication
VAR_028565
Natural varianti588 – 5881D → Y in HEMA. 1 Publication
VAR_028566
Natural varianti594 – 5941L → Q in HEMA; mild. 1 Publication
VAR_028567
Natural varianti596 – 5961S → P in HEMA; severe.
VAR_001116
Natural varianti601 – 6011N → D in HEMA. 1 Publication
VAR_028568
Natural varianti601 – 6011N → K in HEMA. 1 Publication
VAR_028569
Natural varianti602 – 6021R → G in HEMA; mild familial. 3 Publications
VAR_028570
Natural varianti603 – 6031S → I in HEMA.
VAR_001117
Natural varianti603 – 6031S → R in HEMA; severe. 2 Publications
VAR_028571
Natural varianti604 – 6041W → C in HEMA; severe.
VAR_001118
Natural varianti605 – 6051Y → H in HEMA. 1 Publication
VAR_028572
Natural varianti605 – 6051Y → S in HEMA; severe.
VAR_001119
Natural varianti609 – 6091N → I in HEMA; moderate. 1 Publication
VAR_028573
Natural varianti612 – 6121R → C in HEMA; mild/moderate; secretion impaired. 11 Publications
VAR_001120
Natural varianti631 – 6311N → K in HEMA; severe. 1 Publication
VAR_001121
Natural varianti631 – 6311N → S in HEMA.
VAR_001122
Natural varianti633 – 6331M → I in HEMA; mild. 1 Publication
VAR_028574
Natural varianti635 – 6351S → N in HEMA; mild. 1 Publication
VAR_028575
Natural varianti637 – 6371N → D in HEMA; severe sporadic/moderate. 2 Publications
VAR_028576
Natural varianti637 – 6371N → I in HEMA. 1 Publication
VAR_065314
Natural varianti637 – 6371N → S in HEMA; mild; secretion impaired. 1 Publication
VAR_028577
Natural varianti639 – 6391Y → C in HEMA; moderate. 1 Publication
VAR_028578
Natural varianti644 – 6441L → V in HEMA; mild. 1 Publication
VAR_001123
Natural varianti650 – 6501L → F in HEMA; mild. 1 Publication
VAR_028579
Natural varianti653 – 6531V → A in HEMA; mild. 1 Publication
VAR_001124
Natural varianti653 – 6531V → M in HEMA; severe. 2 Publications
VAR_001125
Natural varianti659 – 6591L → P in HEMA. 1 Publication
VAR_028580
Natural varianti663 – 6631A → V in HEMA; mild.
VAR_001126
Natural varianti664 – 6641Q → P in HEMA; moderate-severe. 1 Publication
VAR_028581
Natural varianti671 – 6711Missing in HEMA; severe. 1 Publication
VAR_001127
Natural varianti677 – 6771F → L in HEMA; moderate.
VAR_001128
Natural varianti681 – 6811M → I in HEMA; mild. 1 Publication
VAR_028582
Natural varianti682 – 6821V → F in HEMA. 1 Publication
VAR_028583
Natural varianti683 – 6831Y → C in HEMA; severe. 3 Publications
VAR_028584
Natural varianti683 – 6831Y → N in HEMA; mild. 1 Publication
VAR_028585
Natural varianti686 – 6861