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P00451

- FA8_HUMAN

UniProt

P00451 - FA8_HUMAN

Protein

Coagulation factor VIII

Gene

F8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 200 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      Previous versions | rss
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    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. protein binding Source: UniProtKB
    4. 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

    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: UniProtKB-SubCell
    3. plasma membrane Source: Reactome
    4. platelet alpha granule lumen Source: Reactome

    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.
    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 – 6861T → R in HEMA. 1 Publication