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Coagulation factor VIII (Antihemophilic factor) (AHF) (Procoagulant component) [Cleaved into: Factor VIIIa heavy chain, 200 kDa isoform; Factor VIIIa heavy chain, 92 kDa isoform; Factor VIII B chain; Factor VIIIa light chain]

 FA8_HUMAN               Reviewed;        2351 AA.
P00451; Q14286; Q5HY69;
21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
21-JUL-1986, sequence version 1.
25-OCT-2017, entry version 231.
RecName: Full=Coagulation factor VIII;
AltName: Full=Antihemophilic factor;
Short=AHF;
AltName: Full=Procoagulant component;
Contains:
RecName: Full=Factor VIIIa heavy chain, 200 kDa isoform;
Contains:
RecName: Full=Factor VIIIa heavy chain, 92 kDa isoform;
Contains:
RecName: Full=Factor VIII B chain;
Contains:
RecName: Full=Factor VIIIa light chain;
Flags: Precursor;
Name=F8; Synonyms=F8C;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=3935400; DOI=10.1089/dna.1985.4.333;
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., Valenzuela P., Dahl H.-H.M., Favalaro J., Hansen J.,
Nordfang O., Ezban M.;
"Characterization of the polypeptide composition of human factor
VIII:C and the nucleotide sequence and expression of the human kidney
cDNA.";
DNA 4:333-349(1985).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=6438526; DOI=10.1038/312330a0;
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.;
"Expression of active human factor VIII from recombinant DNA clones.";
Nature 312:330-337(1984).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND ALTERNATIVE SPLICING.
PubMed=1427887; DOI=10.1016/S0888-7543(05)80155-7;
Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J.;
"Evidence for a third transcript from the human factor VIII gene.";
Genomics 14:585-589(1992).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=6438528; DOI=10.1038/312342a0;
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.;
"Molecular cloning of a cDNA encoding human antihaemophilic factor.";
Nature 312:342-347(1984).
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1303178; DOI=10.1093/hmg/1.3.199;
Gitschier J., Wood W.I.;
"Sequence of the exon-containing regions of the human factor VIII
gene.";
Hum. Mol. Genet. 1:199-200(1992).
[6]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-1260 AND VAL-2257.
SeattleSNPs variation discovery resource;
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Hippocampus, and Kidney;
PubMed=14702039; DOI=10.1038/ng1285;
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.,
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
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., 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.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2064-2070.
de Water N.S., Williams R., Browett P.J.;
"Factor VIII gene normal intron 20 sequence.";
Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases.
[12]
PROTEIN SEQUENCE OF 356-378; 727-752 AND 1672-1708, MASS SPECTROMETRY,
AND SULFATION AT TYR-365; TYR-737; TYR-738; TYR-742; TYR-1683 AND
TYR-1699.
PubMed=10368977;
DOI=10.1002/(SICI)1097-0231(19990615)13:11<1016::AID-RCM599>3.0.CO;2-5;
Severs J.C., Carnine M., Eguizabal H., Mock K.K.;
"Characterization of tyrosine sulfate residues in antihemophilic
recombinant factor VIII by liquid chromatography electrospray
ionization tandem mass spectrometry and amino acid analysis.";
Rapid Commun. Mass Spectrom. 13:1016-1023(1999).
[13]
SULFATION AT TYR-1699.
PubMed=1898735;
Leyte A., van Schijndel H.B., Niehrs C., Huttner W.B., Verbeet M.P.,
Mertens K., van Mourik J.A.;
"Sulfation of Tyr1680 of human blood coagulation factor VIII is
essential for the interaction of factor VIII with von Willebrand
factor.";
J. Biol. Chem. 266:740-746(1991).
[14]
SULFATION AT TYR-365; TYR-1683 AND TYR-1699, AND INTERACTION WITH VWF.
PubMed=1554716; DOI=10.1021/bi00128a003;
Pittman D.D., Wang J.H., Kaufman R.J.;
"Identification and functional importance of tyrosine sulfate residues
within recombinant factor VIII.";
Biochemistry 31:3315-3325(1992).
[15]
INTERACTION WITH VWF.
PubMed=9218428; DOI=10.1074/jbc.272.29.18007;
Saenko E.L., Scandella D.;
"The acidic region of the factor VIII light chain and the C2 domain
together form the high affinity binding site for von Willebrand
factor.";
J. Biol. Chem. 272:18007-18014(1997).
[16]
DISULFIDE BONDS.
PubMed=7613471; DOI=10.1002/pro.5560040413;
McMullen B.A., Fujikawa K., Davie E.W., Hedner U., Ezban M.;
"Locations of disulfide bonds and free cysteines in the heavy and
light chains of recombinant human factor VIII (antihemophilic factor
A).";
Protein Sci. 4:740-746(1995).
[17]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601.
TISSUE=Plasma;
PubMed=16335952; DOI=10.1021/pr0502065;
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
Moore R.J., Smith R.D.;
"Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
hydrazide chemistry, and mass spectrometry.";
J. Proteome Res. 4:2070-2080(2005).
[18]
STRUCTURE BY NMR OF 2322-2343.
PubMed=7893714; DOI=10.1021/bi00009a033;
Gilbert G.E., Baleja J.D.;
"Membrane-binding peptide from the C2 domain of factor VIII forms an
amphipathic structure as determined by NMR spectroscopy.";
Biochemistry 34:3022-3031(1995).
[19]
REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=1902642; DOI=10.1111/j.1749-6632.1991.tb43694.x;
Gitschier J.;
"The molecular basis of hemophilia A.";
Ann. N. Y. Acad. Sci. 614:89-96(1991).
[20]
REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=2491949;
White G.C. II, Shoemaker C.B.;
"Factor VIII gene and hemophilia A.";
Blood 73:1-12(1989).
[21]
REVIEW ON MOLECULAR BASIS OF HEMA.
PubMed=7728145; DOI=10.1002/humu.1380050102;
Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D.;
"Molecular etiology of factor VIII deficiency in hemophilia A.";
Hum. Mutat. 5:1-22(1995).
[22]
VARIANT HEMA GLN-2326.
PubMed=3012775; DOI=10.1126/science.3012775;
Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.;
"Identification of a missense mutation in the factor VIII gene of a
mild hemophiliac.";
Science 232:1415-1416(1986).
[23]
VARIANT HEMA PRO-2135.
PubMed=3122181; DOI=10.1093/nar/15.23.9797;
Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.;
"A novel missense mutation in the factor VIII gene identified by
analysis of amplified hemophilia DNA sequences.";
Nucleic Acids Res. 15:9797-9805(1987).
[24]
VARIANT HEMA GLN-2228.
PubMed=2833855;
Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M.,
Kazazian H.H. Jr.;
"Nonsense and missense mutations in hemophilia A: estimate of the
relative mutation rate at CG dinucleotides.";
Am. J. Hum. Genet. 42:718-725(1988).
[25]
VARIANT HEMA GLY-291.
PubMed=2835904;
Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr.,
Antonarakis S.E.;
"Moderately severe hemophilia A resulting from Glu-->Gly substitution
in exon 7 of the factor VIII gene.";
Am. J. Hum. Genet. 42:867-871(1988).
[26]
VARIANT HEMA CYS-1708.
PubMed=2499363;
O'Brien D.P., Tuddenham E.G.;
"Purification and characterization of factor VIII 1,689-Cys: a
nonfunctional cofactor occurring in a patient with severe hemophilia
A.";
Blood 73:2117-2122(1989).
[27]
VARIANT HEMA CYS-391.
PubMed=2506948;
Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.;
"An arginine to cysteine amino acid substitution at a critical
thrombin cleavage site in a dysfunctional factor VIII molecule.";
Blood 74:1612-1617(1989).
[28]
VARIANT HEMA LEU-189.
PubMed=2510835;
Chan V., Chan T.K., Tong T.M., Todd D.;
"A novel missense mutation in exon 4 of the factor VIII:C gene
resulting in moderately severe hemophilia A.";
Blood 74:2688-2691(1989).
[29]
VARIANT HEMA LEU-2326.
PubMed=2495245; DOI=10.1007/BF00283686;
Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.;
"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26
of the factor VIII gene.";
Hum. Genet. 81:335-338(1989).
[30]
VARIANT HEMA HIS-391.
PubMed=2498882; DOI=10.1073/pnas.86.11.4277;
Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr.,
Fujimaki M., Hoyer L.W.;
"Direct characterization of factor VIII in plasma: detection of a
mutation altering a thrombin cleavage site (arginine-
372-->histidine).";
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989).
[31]
VARIANT HEMA CYS-1708.
PubMed=2104766;
Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr.,
Phillips J.A. III, Janco R.L., Hoyer L.W.;
"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.";
Blood 75:384-389(1990).
[32]
VARIANTS HEMA GLN-2228 AND LEU-2326.
PubMed=2105106;
Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G.,
Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.;
"Recurrent mutations and three novel rearrangements in the factor VIII
gene of hemophilia A patients of Italian descent.";
Blood 75:662-670(1990).
[33]
VARIANT HEMA CYS-391.
PubMed=1973901; DOI=10.1111/j.1365-2141.1990.tb02618.x;
Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.;
"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the
internal heavy chain thrombin cleavage site.";
Br. J. Haematol. 75:73-77(1990).
[34]
VARIANTS HEMA PHE-1699 AND CYS-1708.
PubMed=2105906; DOI=10.1016/0888-7543(90)90448-4;
Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K.,
Kazazian H.H. Jr., Antonarakis S.E.;
"Characterization of mutations in the factor VIII gene by direct
sequencing of amplified genomic DNA.";
Genomics 6:65-71(1990).
[35]
VARIANTS HEMA CYS-1728 AND ASP-1941.
PubMed=2106480; DOI=10.1016/0888-7543(90)90569-G;
Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E.,
Kazazian H.H. Jr.;
"Use of denaturing gradient gel electrophoresis to detect point
mutations in the factor VIII gene.";
Genomics 6:293-301(1990).
[36]
VARIANTS HEMA LEU-345 AND ARG-348.
PubMed=2107542; DOI=10.1073/pnas.87.6.2092;
Kogan S., Gitschier J.;
"Mutations and a polymorphism in the factor VIII gene discovered by
denaturing gradient gel electrophoresis.";
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990).
[37]
VARIANTS HEMA LYS-1723 AND SER-2319.
PubMed=1908817; DOI=10.1007/BF00197155;
Paynton C., Sarkar G., Sommer S.S.;
"Identification of mutations in two families with sporadic hemophilia
A.";
Hum. Genet. 87:397-400(1991).
[38]
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.
PubMed=1908096; DOI=10.1073/pnas.88.16.7405;
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.;
"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.";
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991).
[39]
VARIANTS.
PubMed=1924291; DOI=10.1073/pnas.88.19.8307;
Higuchi M., Antonarakis S.E., Kasch L., Oldenburg J.,
Economou-Petersen E., Olek K., Arai M., Inaba H., Kazazian H.H. Jr.;
"Molecular characterization of mild-to-moderate hemophilia A:
detection of the mutation in 25 of 29 patients by denaturing gradient
gel electrophoresis.";
Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991).
[40]
VARIANTS HEMA CYS-1708 AND HIS-1708.
PubMed=1851341; DOI=10.1016/0049-3848(91)90098-H;
Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H.,
Brackmann H.H., Olek K.;
"Detection and characterisation of two missense mutations at a
cleavage site in the factor VIII light chain.";
Thromb. Res. 61:225-234(1991).
[41]
VARIANTS HEMA LYS-291 AND GLN-1960.
PubMed=1356412; DOI=10.1111/j.1365-2141.1992.tb08264.x;
Krepelova A., Vorlova Z., Acquila M., Mori P.;
"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII
gene in two haemophilia A patients of Czech origin.";
Br. J. Haematol. 81:458-458(1992).
[42]
VARIANTS HEMA PRO-1845 AND PRO-2224 DEL.
PubMed=1639429; DOI=10.1016/0888-7543(92)90189-Y;
Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.;
"Detection of mutations in the factor VIII gene using single-stranded
conformational polymorphism (SSCP).";
Genomics 13:909-911(1992).
[43]
VARIANT HEMA GLY-1715.
PubMed=1349567; DOI=10.1007/BF00207049;
Reiner A.P., Thompson A.R.;
"Screening for nonsense mutations in patients with severe hemophilia A
can provide rapid, direct carrier detection.";
Hum. Genet. 89:88-94(1992).
[44]
VARIANT HEMA LEU-1960.
PubMed=1301194; DOI=10.1002/humu.1380010114;
Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y.,
Kaplan J.C., Delpech M.;
"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene
responsible for moderate hemophilia A.";
Hum. Mutat. 1:77-78(1992).
[45]
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.
PubMed=1301932; DOI=10.1002/humu.1380010312;
Diamond C., Kogan S., Levinson B., Gitschier J.;
"Amino acid substitutions in conserved domains of factor VIII and
related proteins: study of patients with mild and moderately severe
hemophilia A.";
Hum. Mutat. 1:248-257(1992).
[46]
VARIANTS HEMA CYS-1800 AND ILE-2173.
PubMed=1301960; DOI=10.1002/humu.1380010610;
Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O.,
Gitschier J.;
"Missense mutations causing mild hemophilia A in Iceland detected by
denaturing gradient gel electrophoresis.";
Hum. Mutat. 1:506-508(1992).
[47]
VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653;
PHE-671 DEL; LYS-1460 AND CYS-2178.
PubMed=8449505; DOI=10.1006/geno.1993.1073;
McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H.,
Antonarakis S.E.;
"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.";
Genomics 15:392-398(1993).
[48]
VARIANTS HEMA ILE-299 AND ASN-450.
PubMed=8322269;
Pieneman W.C., Reitsma P.H., Briet E.;
"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.";
Thromb. Haemost. 69:473-475(1993).
[49]
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, AND
VARIANT VAL-2257.
PubMed=7579394;
Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P.,
Annichino-Bizzacchi J.M., Brieet E., Costa F.F.;
"Eleven novel mutations in the factor VIII gene from Brazilian
hemophilia A patients.";
Blood 86:3015-3020(1995).
[50]
VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705;
CYS-1708; TRP-2016 AND ARG-2119.
PubMed=7794769;
Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.;
"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.";
Br. J. Haematol. 90:442-449(1995).
[51]
VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888.
PubMed=7759074; DOI=10.1007/BF00223865;
Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.;
"Detection of mutations in ectopic factor VIII transcripts from nine
haemophilia A patients and the correlation with phenotype.";
Hum. Genet. 95:531-538(1995).
[52]
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.
PubMed=8644728;
Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W.,
Brackmann H.H., Grimm T., Olek K., Oldenburg J.;
"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.";
Am. J. Hum. Genet. 58:657-670(1996).
[53]
VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND
HIS-2169, AND VARIANT MET-2242.
PubMed=8639447; DOI=10.1046/j.1365-2141.1996.4981042.x;
Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.;
"Molecular characterization of haemophilia A in southern Chinese.";
Br. J. Haematol. 93:451-456(1996).
[54]
VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND
PHE-1951.
PubMed=8759905; DOI=10.1046/j.1365-2141.1996.d01-1792.x;
Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J.,
Lloyd J.V.;
"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.";
Br. J. Haematol. 94:400-406(1996).
[55]
VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966.
PubMed=9029040; DOI=10.1046/j.1365-2141.1997.d01-2008.x;
Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.;
"Mutations in the FVIII gene in seven families with mild haemophilia
A.";
Br. J. Haematol. 96:426-427(1997).
[56]
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.
PubMed=9326186; DOI=10.1046/j.1365-2141.1997.2963113.x;
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.;
"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced
haemophilia A patients by single-strand conformation polymorphism.";
Br. J. Haematol. 98:901-906(1997).
[57]
VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106.
PubMed=9341862; DOI=10.1007/s004390050543;
Tavassoli K., Eigel A., Pollmann H., Horst J.;
"Mutational analysis of ectopic factor VIII transcripts from
hemophilia A patients: identification of cryptic splice site, exon
skipping and novel point mutations.";
Hum. Genet. 100:508-511(1997).
[58]
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.
PubMed=9886318; DOI=10.1046/j.1365-2141.1998.01122.x;
Liu M., Murphy M.E.P., Thompson A.R.;
"A domain mutations in 65 haemophilia A families and molecular
modelling of dysfunctional factor VIII proteins.";
Br. J. Haematol. 103:1051-1060(1998).
[59]
VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800.
PubMed=9450898;
DOI=10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H;
Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C.,
Demaille J., Claustres M.;
"Protein truncation test: detection of severe haemophilia a mutation
and analysis of factor VIII transcripts.";
Hum. Mutat. 11:18-22(1998).
[60]
VARIANT HEMA HIS-2182.
PubMed=10215414;
DOI=10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X;
Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr.,
Antonarakis S.E., Hill F.G.H.;
"Independent occurrence of the novel Arg2163 to His mutation in the
factor VIII gene in three unrelated families with haemophilia A with
different phenotypes.";
Hum. Mutat. 11:334-334(1998).
[61]
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.
PubMed=9603440;
DOI=10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A;
Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J.,
Cassiman J.-J., Matthijs G.;
"Fluorescent chemical cleavage of mismatches for efficient screening
of the factor VIII gene.";
Hum. Mutat. 11:470-479(1998).
[62]
VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204.
PubMed=9452104;
Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.;
"Identification of four novel mutations in the factor VIII gene: three
missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion
(1780delTC).";
Hum. Mutat. Suppl. 1:S260-S262(1998).
[63]
VARIANTS HEMA.
PubMed=9792405;
DOI=10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.3.CO;2-3;
Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.;
"Molecular diagnostics of 15 hemophilia A patients: characterization
of eight novel mutations in the factor VIII gene, two of which result
in exon skipping.";
Hum. Mutat. 12:301-303(1998).
[64]
VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319.
PubMed=9829908;
DOI=10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A;
Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.;
"Use of denaturing gradient gel blots to screen for point mutations in
the factor VIII gene.";
Hum. Mutat. 12:393-402(1998).
[65]
VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, AND VARIANT VAL-2257.
PubMed=9569180;
Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G.,
Wright J., Peake I.R., Goodeve A.C.;
"Precise carrier diagnosis in families with haemophilia A: use of
conformation sensitive gel electrophoresis for mutation screening and
polymorphism analysis.";
Thromb. Haemost. 79:723-726(1998).
[66]
VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169;
HIS-2182; ASP-2200; CYS-2248 AND ILE-2279.
PubMed=9569189;
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.;
"Factor VIII inhibitors in mild and moderate-severity haemophilia A.";
Thromb. Haemost. 79:762-766(1998).
[67]
VARIANT HEMA LEU-1973.
PubMed=10554831; DOI=10.1046/j.1365-2141.1999.01460.x;
Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R.,
Lloyd J.V.;
"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.";
Br. J. Haematol. 105:1123-1126(1999).
[68]
VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND
GLN-2326.
PubMed=10338101;
DOI=10.1002/(SICI)1098-1004(1999)13:5<413::AID-HUMU15>3.3.CO;2-5;
Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.;
"Screen of 55 Slovenian haemophilia A patients: identification of 2
novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation
spectrum.";
Hum. Mutat. 13:413-413(1999).
[69]
VARIANTS HEMA ARG-202 AND HIS-301.
PubMed=10408784;
DOI=10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU14>3.3.CO;2-0;
Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.;
"Mutational-screening in the factor VIII gene resulting in the
identification of three novel mutations, one of which is a donor
splice mutation.";
Hum. Mutat. 13:504-504(1999).
[70]
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.
PubMed=10404764;
The haemophilia centres;
Waseem N.H., Bagnall R., Green P.M., Giannelli F.;
"Start of UK confidential haemophilia A database: analysis of 142
patients by solid phase fluorescent chemical cleavage of mismatch.";
Thromb. Haemost. 81:900-905(1999).
[71]
VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, AND
CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169.
PubMed=10910910;
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.;
"A novel cause of mild/moderate hemophilia A: mutations scattered in
the factor VIII C1 domain reduce factor VIII binding to von Willebrand
factor.";
Blood 96:958-965(2000).
[72]
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.
PubMed=10910913;
Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W.,
Stoddard B.L., Thompson A.R.;
"Hemophilic factor VIII C1- and C2-domain missense mutations and their
modeling to the 1.5-angstrom human C2-domain crystal structure.";
Blood 96:979-987(2000).
[73]
VARIANTS HEMA CYS-612 AND SER-637, AND CHARACTERIZATION OF VARIANTS
HEMA CYS-612 AND SER-637.
PubMed=10691849; DOI=10.1046/j.1365-2141.2000.01834.x;
Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M.,
Van Mourik J.A., Voorberg J.;
"Intracellular accumulation of factor VIII induced by missense
mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting
material-reduced haemophilia A.";
Br. J. Haematol. 108:241-246(2000).
[74]
VARIANT HEMA ILE-713.
PubMed=10886198; DOI=10.1046/j.1365-2141.2000.02021.x;
Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C.,
Hanfland P., Ingerslev J.;
"Assay discrepancy in mild haemophilia A due to a factor VIII missense
mutation (Asn694Ile) in a large Danish family.";
Br. J. Haematol. 109:523-528(2000).
[75]
VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228
AND ARG-2332.
PubMed=10800171;
Tagariello G., Belvini D., Salviato R., Are A., De Biasi E.,
Goodeve A., Davoli P.;
"Experience of a single Italian center in genetic counseling for
hemophilia: from linkage analysis to molecular diagnosis.";
Haematologica 85:525-529(2000).
[76]
VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000;
HIS-2169 AND PRO-2228.
PubMed=10896236;
Recombinate PUP study group;
Goodeve A.C., Williams I., Bray G.L., Peake I.R.;
"Relationship between factor VIII mutation type and inhibitor
development in a cohort of previously untreated patients treated with
recombinant factor VIII (Recombinate).";
Thromb. Haemost. 83:844-848(2000).
[77]
VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344.
PubMed=10612839;
DOI=10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E;
Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A.,
Thanootarakul P., Veerakul G., Mahasandana C., Panyim S.,
Yenchitsomanus P.;
"Mutations of the factor VIII gene in Thai hemophilia A patients.";
Hum. Mutat. 15:117-118(2000).
[78]
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.
PubMed=11410838; DOI=10.1086/321285;
Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A.,
Eigel A., Ljung R., Goodeve A., Peake I., Olek K.;
"Somatic mosaicism in hemophilia A: a fairly common event.";
Am. J. Hum. Genet. 69:75-87(2001).
[79]
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.
PubMed=11298607; DOI=10.1046/j.1365-2141.2001.02671.x;
Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C.,
Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.;
"Lithuanian haemophilia A and B registry comprising phenotypic and
genotypic data.";
Br. J. Haematol. 112:1062-1070(2001).
[80]
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.
PubMed=11442643; DOI=10.1046/j.1365-2516.2001.00528.x;
Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.;
"Site and type of mutations in the factor VIII gene in patients and
carriers of haemophilia A.";
Haemophilia 7:381-391(2001).
[81]
VARIANT HEMA ALA-92.
PubMed=11442647;
Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.;
"Mild haemophilia A discovered in a previously multi-operated 73-year-
old man: characterization of a new mutation.";
Haemophilia 7:419-421(2001).
[82]
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.
PubMed=11554935; DOI=10.1046/j.1365-2516.2001.00548.x;
Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K.,
Caglayan S.H.;
"Molecular pathology of haemophilia A in Turkish patients:
identification of 36 independent mutations.";
Haemophilia 7:475-481(2001).
[83]
VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178
AND PRO-2326.
PubMed=11748850; DOI=10.1002/humu.1234;
Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B.,
Eigel A., Horst J.;
"Seven novel and four recurrent point mutations in the factor VIII
(F8C) gene.";
Hum. Mutat. 18:546-546(2001).
[84]
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.
PubMed=11341489;
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.;
"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing
procedure: identification of 14 novel mutations.";
Thromb. Haemost. 85:580-583(2001).
[85]
ERRATUM.
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.;
Thromb. Haemost. 86:727-727(2001).
[86]
VARIANT HEMA CYS-35.
PubMed=12351418; DOI=10.1182/blood-2002-01-0277;
Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M.,
Negrier C.;
"Skewed X-chromosome inactivation in monochorionic diamniotic twin
sisters results in severe and mild hemophilia A.";
Blood 100:3034-3036(2002).
[87]
VARIANT HEMA GLY-198.
PubMed=12406074; DOI=10.1046/j.1365-2141.2002.03819.x;
Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M.,
Goudemand J.;
"Factor VIII deficiency not induced by FVIII gene mutation in a female
first cousin of two brothers with haemophilia A.";
Br. J. Haematol. 119:390-392(2002).
[88]
VARIANTS HEMA PRO-97 AND GLY-2193.
PubMed=12199686; DOI=10.1046/j.1365-2516.2002.00661.x;
Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S.,
Efremov G.D.;
"Three novel point mutations causing haemophilia A.";
Haemophilia 8:715-718(2002).
[89]
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.
PubMed=11857744; DOI=10.1002/humu.10056;
Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.;
"The identification and classification of 41 novel mutations in the
factor VIII gene (F8C).";
Hum. Mutat. 19:274-278(2002).
[90]
VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330.
PubMed=12203998; DOI=10.1002/humu.9052;
Frusconi S., Passerini I., Girolami F., Masieri M., Linari S.,
Longo G., Morfini M., Torricelli F.;
"Identification of seven novel mutations of F8C by DHPLC.";
Hum. Mutat. 20:231-232(2002).
[91]
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.
PubMed=12325022; DOI=10.1002/humu.10119;
Citron M., Godmilow L., Ganguly T., Ganguly A.;
"High throughput mutation screening of the factor VIII gene (F8C) in
hemophilia A: 37 novel mutations and genotype-phenotype correlation.";
Hum. Mutat. 20:267-274(2002).
[92]
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.
PubMed=11858487;
Liu M.-L., Nakaya S., Thompson A.R.;
"Non-inversion factor VIII mutations in 80 hemophilia A families
including 24 with alloimmune responses.";
Thromb. Haemost. 87:273-276(2002).
[93]
VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND
GLN-2326, AND VARIANT GLU-1260.
PubMed=12195713;
Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.;
"11 hemophilia A patients without mutations in the factor VIII
encoding gene.";
Thromb. Haemost. 88:357-360(2002).
[94]
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.
PubMed=12930394; DOI=10.1046/j.1365-2141.2003.04494.x;
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G.,
Molinari A.C., Rosano C., Acquila M.;
"Analysis of 18 novel mutations in the factor VIII gene.";
Br. J. Haematol. 122:810-817(2003).
[95]
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.
PubMed=12871415; DOI=10.1046/j.1538-7836.2003.00149.x;
Habart D., Kalabova D., Novotny M., Vorlova Z.;
"Thirty-four novel mutations detected in factor VIII gene by multiplex
CSGE: modeling of 13 novel amino acid substitutions.";
J. Thromb. Haemost. 1:773-781(2003).
[96]
VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344.
PubMed=12614369; DOI=10.1046/j.1365-2516.2003.00729.x;
Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S.,
Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.;
"Genotype and phenotype of haemophilia A in Thai patients.";
Haemophilia 9:179-186(2003).
[97]
VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND
ALA-2251.
PubMed=15682412; DOI=10.1002/ajh.20234;
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C.,
Caprino D., Rosano C., Acquila M.;
"Small FVIII gene rearrangements in 18 hemophilia A patients: five
novel mutations.";
Am. J. Hematol. 78:117-122(2005).
[98]
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.
PubMed=15810915; DOI=10.1111/j.1365-2516.2005.01069.x;
Hill M., Deam S., Gordon B., Dolan G.;
"Mutation analysis in 51 patients with haemophilia A: report of 10
novel mutations and correlations between genotype and clinical
phenotype.";
Haemophilia 11:133-141(2005).
[99]
VARIANT HEMA PRO-1994.
PubMed=16805874; DOI=10.1111/j.1538-7836.2006.02105.x;
Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F.,
Wang H.-L.;
"Female haemophilia A heterozygous for a de novo frameshift and a
novel missense mutation of factor VIII.";
J. Thromb. Haemost. 4:1969-1974(2006).
[100]
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.
PubMed=18184865; DOI=10.1182/blood-2007-08-108068;
Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M.,
Baiget M., Fuentes-Prior P., Tizzano E.F.;
"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.";
Blood 111:3468-3478(2008).
[101]
VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344.
PubMed=21371196; DOI=10.1111/j.1365-2516.2011.02500.x;
Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.;
"Identification of factor VIII gene mutations in patients with severe
haemophilia A in Venezuela: identification of seven novel mutations.";
Haemophilia 17:913-918(2011).
[102]
VARIANTS HEMA SER-439 AND THR-723.
PubMed=25550078; DOI=10.1177/1076029614562951;
Nair P.S., Shetty S., Ghosh K.;
"Factor VIII Antigen, Activity, and Mutations in Hemophilia A.";
Clin. Appl. Thromb. Hemost. 22:381-385(2016).
[103]
VARIANT HEMA LEU-1828, AND CHARACTERIZATION OF VARIANT HEMA LEU-1828.
PubMed=26278069; DOI=10.1111/jth.13118;
Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.;
"Mild hemophilia A patient with novel Pro1809Leu mutation develops an
anti-C2 antibody inhibiting allogeneic but not autologous factor VIII
activity.";
J. Thromb. Haemost. 13:1843-1853(2015).
-!- FUNCTION: Factor VIII, along with calcium and phospholipid, acts
as a cofactor for F9/factor IXa when it converts F10/factor X to
the activated form, factor Xa.
-!- SUBUNIT: Interacts with VWF/vWF. vWF binding is essential for the
stabilization of F8 in circulation. {ECO:0000269|PubMed:1554716,
ECO:0000269|PubMed:9218428}.
-!- INTERACTION:
P00740:F9; NbExp=2; IntAct=EBI-11621603, EBI-9640450;
-!- SUBCELLULAR LOCATION: Secreted, extracellular space.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P00451-1; Sequence=Displayed;
Name=2; Synonyms=F8B;
IsoId=P00451-2; Sequence=VSP_042656, VSP_042657;
-!- DOMAIN: Domain F5/8 type C 2 is responsible for phospholipid-
binding and essential for factor VIII activity.
-!- PTM: Sulfation on Tyr-1699 is essential for binding vWF.
{ECO:0000269|PubMed:10368977, ECO:0000269|PubMed:1554716,
ECO:0000269|PubMed:1898735}.
-!- MASS SPECTROMETRY: Mass=1367.6; Method=Electrospray; Range=356-
378; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=1407.4; Method=Electrospray; Range=356-
378; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=2975.4; Method=Electrospray; Range=400-
424; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=3024; Method=Electrospray; Range=727-752;
Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=3104; Method=Electrospray; Range=727-752;
Note=Monosulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=3183.5; Method=Electrospray; Range=727-
752; Note=Disulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=3262.5; Method=Electrospray; Range=727-
752; Note=Trisulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=2460.9; Method=Electrospray; Range=1672-
1692; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=2540.7; Method=Electrospray; Range=1672-
1692; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=2000.7; Method=Electrospray; Range=1691-
1708; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- MASS SPECTROMETRY: Mass=2080.7; Method=Electrospray; Range=1691-
1708; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
-!- 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. {ECO:0000269|PubMed:10215414,
ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:10554831,
ECO:0000269|PubMed:10612839, ECO:0000269|PubMed:10691849,
ECO:0000269|PubMed:10800171, ECO:0000269|PubMed:10886198,
ECO:0000269|PubMed:10896236, ECO:0000269|PubMed:10910910,
ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11442647,
ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11748850,
ECO:0000269|PubMed:11857744, ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12199686,
ECO:0000269|PubMed:12203998, ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:12351418, ECO:0000269|PubMed:12406074,
ECO:0000269|PubMed:12614369, ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:12930394, ECO:0000269|PubMed:1301194,
ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:1301960,
ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:1356412,
ECO:0000269|PubMed:15682412, ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:1639429, ECO:0000269|PubMed:16805874,
ECO:0000269|PubMed:18184865, ECO:0000269|PubMed:1851341,
ECO:0000269|PubMed:1908096, ECO:0000269|PubMed:1908817,
ECO:0000269|PubMed:1973901, ECO:0000269|PubMed:2104766,
ECO:0000269|PubMed:2105106, ECO:0000269|PubMed:2105906,
ECO:0000269|PubMed:2106480, ECO:0000269|PubMed:2107542,
ECO:0000269|PubMed:21371196, ECO:0000269|PubMed:2495245,
ECO:0000269|PubMed:2498882, ECO:0000269|PubMed:2499363,
ECO:0000269|PubMed:2506948, ECO:0000269|PubMed:2510835,
ECO:0000269|PubMed:25550078, ECO:0000269|PubMed:26278069,
ECO:0000269|PubMed:2833855, ECO:0000269|PubMed:2835904,
ECO:0000269|PubMed:3012775, ECO:0000269|PubMed:3122181,
ECO:0000269|PubMed:7579394, ECO:0000269|PubMed:7759074,
ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8322269,
ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:8639447,
ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:8759905,
ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9326186,
ECO:0000269|PubMed:9341862, ECO:0000269|PubMed:9450898,
ECO:0000269|PubMed:9452104, ECO:0000269|PubMed:9569180,
ECO:0000269|PubMed:9569189, ECO:0000269|PubMed:9603440,
ECO:0000269|PubMed:9792405, ECO:0000269|PubMed:9829908,
ECO:0000269|PubMed:9886318}. 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.
-!- PHARMACEUTICAL: Available under the names Kogenate (Bayer) and
Recombinate (Baxter and American Home Products). Used to treat
hemophilia A.
-!- SIMILARITY: Belongs to the multicopper oxidase family.
{ECO:0000305}.
-!- WEB RESOURCE: Name=Wikipedia; Note=Factor VIII entry;
URL="https://en.wikipedia.org/wiki/Factor_VIII";
-!- WEB RESOURCE: Name=Factor VIII variant database;
URL="http://www.factorviii-db.org/";
-!- WEB RESOURCE: Name=SeattleSNPs;
URL="http://pga.gs.washington.edu/data/f8/";
-----------------------------------------------------------------------
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EMBL; M14113; AAA52485.1; -; mRNA.
EMBL; X01179; CAA25619.1; -; mRNA.
EMBL; M90707; AAA58466.1; -; mRNA.
EMBL; K01740; AAA52484.1; -; mRNA.
EMBL; M88648; AAA52420.1; -; Genomic_DNA.
EMBL; M88628; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88629; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88630; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88631; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88632; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88633; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88634; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88635; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88636; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88638; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88639; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88640; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88641; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88642; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88643; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88644; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88645; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88646; AAA52420.1; JOINED; Genomic_DNA.
EMBL; M88647; AAA52420.1; JOINED; Genomic_DNA.
EMBL; AY769950; AAV85964.1; -; Genomic_DNA.
EMBL; AK289947; BAF82636.1; -; mRNA.
EMBL; AK313707; BAG36452.1; -; mRNA.
EMBL; BX470111; CAI41660.1; -; Genomic_DNA.
EMBL; AC109993; CAI41660.1; JOINED; Genomic_DNA.
EMBL; BX842559; CAI41660.1; JOINED; Genomic_DNA.
EMBL; BX842564; CAI41660.1; JOINED; Genomic_DNA.
EMBL; BX890586; CAI41660.1; JOINED; Genomic_DNA.
EMBL; BX842564; CAI41666.1; -; Genomic_DNA.
EMBL; AC109993; CAI41666.1; JOINED; Genomic_DNA.
EMBL; BX470111; CAI41666.1; JOINED; Genomic_DNA.
EMBL; BX842559; CAI41666.1; JOINED; Genomic_DNA.
EMBL; BX890586; CAI41666.1; JOINED; Genomic_DNA.
EMBL; BX842559; CAI41672.1; -; Genomic_DNA.
EMBL; AC109993; CAI41672.1; JOINED; Genomic_DNA.
EMBL; BX470111; CAI41672.1; JOINED; Genomic_DNA.
EMBL; BX842564; CAI41672.1; JOINED; Genomic_DNA.
EMBL; BX890586; CAI41672.1; JOINED; Genomic_DNA.
EMBL; BX890586; CAI43241.1; -; Genomic_DNA.
EMBL; AC109993; CAI43241.1; JOINED; Genomic_DNA.
EMBL; BX470111; CAI43241.1; JOINED; Genomic_DNA.
EMBL; BX842559; CAI43241.1; JOINED; Genomic_DNA.
EMBL; BX842564; CAI43241.1; JOINED; Genomic_DNA.
EMBL; BX842559; CAO03404.1; -; Genomic_DNA.
EMBL; AC109993; CAO03404.1; JOINED; Genomic_DNA.
EMBL; CH471172; EAW72645.1; -; Genomic_DNA.
EMBL; BC022513; AAH22513.1; -; mRNA.
EMBL; BC064380; AAH64380.1; -; mRNA.
EMBL; BC098389; AAH98389.1; -; mRNA.
EMBL; BC111967; AAI11968.1; -; mRNA.
EMBL; BC111969; AAI11970.1; -; mRNA.
EMBL; U80228; AAB61261.1; -; Genomic_DNA.
CCDS; CCDS35457.1; -. [P00451-1]
CCDS; CCDS44026.1; -. [P00451-2]
PIR; I54318; EZHU.
RefSeq; NP_000123.1; NM_000132.3. [P00451-1]
RefSeq; NP_063916.1; NM_019863.2. [P00451-2]
UniGene; Hs.632836; -.
UniGene; Hs.654450; -.
PDB; 1CFG; NMR; -; A=2322-2343.
PDB; 1D7P; X-ray; 1.50 A; M=2190-2348.
PDB; 1FAC; NMR; -; A=2322-2342.
PDB; 1IQD; X-ray; 2.00 A; C=2193-2348.
PDB; 2R7E; X-ray; 3.70 A; A=19-760, B=1582-2351.
PDB; 3CDZ; X-ray; 3.98 A; A=20-759, B=1668-2351.
PDB; 3HNB; X-ray; 1.15 A; M=2189-2347.
PDB; 3HNY; X-ray; 1.07 A; M=2189-2347.
PDB; 3HOB; X-ray; 2.07 A; A/M=2189-2347.
PDB; 3J2Q; EM; 15.00 A; A=20-764, B=1668-2351.
PDB; 3J2S; EM; 15.00 A; B=1710-2351.
PDB; 4BDV; X-ray; 3.98 A; A=20-1666, B=1667-2351.
PDB; 4KI5; X-ray; 2.47 A; M=2190-2351.
PDB; 4PT6; X-ray; 2.10 A; A/B=2190-2215, A/B=2222-2351.
PDB; 4XZU; X-ray; 2.61 A; G/M=2193-2346.
PDB; 5K8D; X-ray; 4.19 A; A=20-759, B=1713-2350.
PDBsum; 1CFG; -.
PDBsum; 1D7P; -.
PDBsum; 1FAC; -.
PDBsum; 1IQD; -.
PDBsum; 2R7E; -.
PDBsum; 3CDZ; -.
PDBsum; 3HNB; -.
PDBsum; 3HNY; -.
PDBsum; 3HOB; -.
PDBsum; 3J2Q; -.
PDBsum; 3J2S; -.
PDBsum; 4BDV; -.
PDBsum; 4KI5; -.
PDBsum; 4PT6; -.
PDBsum; 4XZU; -.
PDBsum; 5K8D; -.
ProteinModelPortal; P00451; -.
SMR; P00451; -.
BioGrid; 108455; 11.
DIP; DIP-29774N; -.
IntAct; P00451; 8.
MINT; MINT-202317; -.
STRING; 9606.ENSP00000353393; -.
BindingDB; P00451; -.
ChEMBL; CHEMBL3143; -.
DrugBank; DB00100; Coagulation Factor IX (Recombinant).
DrugBank; DB00055; Drotrecogin alfa.
Allergome; 9868; Hom s Factor VIII.
iPTMnet; P00451; -.
PhosphoSitePlus; P00451; -.
UniCarbKB; P00451; -.
BioMuta; F8; -.
DMDM; 119767; -.
PaxDb; P00451; -.
PeptideAtlas; P00451; -.
PRIDE; P00451; -.
DNASU; 2157; -.
Ensembl; ENST00000330287; ENSP00000327895; ENSG00000185010. [P00451-2]
Ensembl; ENST00000360256; ENSP00000353393; ENSG00000185010. [P00451-1]
GeneID; 2157; -.
KEGG; hsa:2157; -.
UCSC; uc004fms.4; human. [P00451-1]
CTD; 2157; -.
DisGeNET; 2157; -.
EuPathDB; HostDB:ENSG00000185010.13; -.
GeneCards; F8; -.
GeneReviews; F8; -.
HGNC; HGNC:3546; F8.
HPA; CAB018777; -.
MalaCards; F8; -.
MIM; 134500; phenotype.
MIM; 300841; gene.
MIM; 306700; phenotype.
neXtProt; NX_P00451; -.
OpenTargets; ENSG00000185010; -.
Orphanet; 169808; Mild hemophilia A.
Orphanet; 169805; Moderately severe hemophilia A.
Orphanet; 169802; Severe hemophilia A.
Orphanet; 177926; Symptomatic form of hemophilia A in female carriers.
PharmGKB; PA27952; -.
eggNOG; ENOG410IJ6Y; Eukaryota.
eggNOG; ENOG4111F6G; LUCA.
GeneTree; ENSGT00550000074552; -.
HOGENOM; HOG000231686; -.
HOVERGEN; HBG106657; -.
InParanoid; P00451; -.
KO; K03899; -.
OMA; KYKKVRF; -.
OrthoDB; EOG091G00QL; -.
PhylomeDB; P00451; -.
TreeFam; TF329807; -.
Reactome; R-HSA-114608; Platelet degranulation.
Reactome; R-HSA-140837; Intrinsic Pathway of Fibrin Clot Formation.
Reactome; R-HSA-140875; Common Pathway of Fibrin Clot Formation.
Reactome; R-HSA-204005; COPII (Coat Protein 2) Mediated Vesicle Transport.
Reactome; R-HSA-5694530; Cargo concentration in the ER.
SABIO-RK; P00451; -.
SIGNOR; P00451; -.
EvolutionaryTrace; P00451; -.
GeneWiki; Factor_VIII; -.
GenomeRNAi; 2157; -.
PRO; PR:P00451; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000185010; -.
CleanEx; HS_F8; -.
ExpressionAtlas; P00451; baseline and differential.
Genevisible; P00451; HS.
GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; TAS:Reactome.
GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome.
GO; GO:0005576; C:extracellular region; TAS:Reactome.
GO; GO:0005615; C:extracellular space; IEA:UniProtKB-SubCell.
GO; GO:0000139; C:Golgi membrane; IEA:GOC.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0031093; C:platelet alpha granule lumen; TAS:Reactome.
GO; GO:0005507; F:copper ion binding; IEA:InterPro.
GO; GO:0016491; F:oxidoreductase activity; IEA:InterPro.
GO; GO:0006953; P:acute-phase response; IEA:UniProtKB-KW.
GO; GO:0007596; P:blood coagulation; TAS:Reactome.
GO; GO:0007597; P:blood coagulation, intrinsic pathway; TAS:Reactome.
GO; GO:0048208; P:COPII vesicle coating; TAS:Reactome.
GO; GO:0006888; P:ER to Golgi vesicle-mediated transport; TAS:Reactome.
GO; GO:0030168; P:platelet activation; IEA:InterPro.
GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
Gene3D; 2.60.120.260; -; 2.
Gene3D; 2.60.40.420; -; 6.
InterPro; IPR001117; Cu-oxidase.
InterPro; IPR011706; Cu-oxidase_2.
InterPro; IPR011707; Cu-oxidase_3.
InterPro; IPR033138; Cu_oxidase_CS.
InterPro; IPR008972; Cupredoxin.
InterPro; IPR000421; FA58C.
InterPro; IPR024715; Factor_5/8_like.
InterPro; IPR014707; Factor_8.
InterPro; IPR008979; Galactose-bd-like.
PANTHER; PTHR45309; PTHR45309; 1.
Pfam; PF00394; Cu-oxidase; 1.
Pfam; PF07731; Cu-oxidase_2; 1.
Pfam; PF07732; Cu-oxidase_3; 2.
Pfam; PF00754; F5_F8_type_C; 2.
PIRSF; PIRSF000354; Factors_V_VIII; 1.
SMART; SM00231; FA58C; 2.
SUPFAM; SSF49503; SSF49503; 6.
SUPFAM; SSF49785; SSF49785; 2.
PROSITE; PS01285; FA58C_1; 2.
PROSITE; PS01286; FA58C_2; 2.
PROSITE; PS50022; FA58C_3; 2.
PROSITE; PS00079; MULTICOPPER_OXIDASE1; 3.
1: Evidence at protein level;
3D-structure; Acute phase; Alternative splicing; Blood coagulation;
Calcium; Complete proteome; Direct protein sequencing;
Disease mutation; Disulfide bond; Glycoprotein; Hemophilia;
Hemostasis; Metal-binding; Pharmaceutical; Polymorphism;
Reference proteome; Repeat; Secreted; Signal; Sulfation.
SIGNAL 1 19
CHAIN 20 2351 Coagulation factor VIII.
/FTId=PRO_0000002967.
CHAIN 20 1332 Factor VIIIa heavy chain, 200 kDa
isoform.
/FTId=PRO_0000002968.
CHAIN 20 759 Factor VIIIa heavy chain, 92 kDa isoform.
/FTId=PRO_0000002969.
CHAIN 760 1332 Factor VIII B chain.
/FTId=PRO_0000002970.
CHAIN 1668 2351 Factor VIIIa light chain.
/FTId=PRO_0000002971.
DOMAIN 20 348 F5/8 type A 1.
DOMAIN 20 198 Plastocyanin-like 1.
DOMAIN 206 348 Plastocyanin-like 2.
DOMAIN 399 730 F5/8 type A 2.
DOMAIN 399 573 Plastocyanin-like 3.
DOMAIN 583 730 Plastocyanin-like 4.
DOMAIN 1713 2040 F5/8 type A 3.
DOMAIN 1713 1877 Plastocyanin-like 5.
DOMAIN 1887 2040 Plastocyanin-like 6.
DOMAIN 2040 2188 F5/8 type C 1. {ECO:0000255|PROSITE-
ProRule:PRU00081}.
DOMAIN 2193 2345 F5/8 type C 2. {ECO:0000255|PROSITE-
ProRule:PRU00081}.
REGION 760 1667 B.
SITE 391 392 Cleavage; by thrombin.
SITE 759 760 Cleavage; by thrombin.
SITE 1332 1333 Cleavage (activation).
SITE 1667 1668 Cleavage (activation).
SITE 1708 1709 Cleavage; by thrombin.
MOD_RES 365 365 Sulfotyrosine.
{ECO:0000269|PubMed:10368977,
ECO:0000269|PubMed:1554716}.
MOD_RES 737 737 Sulfotyrosine.
{ECO:0000269|PubMed:10368977}.
MOD_RES 738 738 Sulfotyrosine.
{ECO:0000269|PubMed:10368977}.
MOD_RES 742 742 Sulfotyrosine.
{ECO:0000269|PubMed:10368977}.
MOD_RES 1683 1683 Sulfotyrosine.
{ECO:0000269|PubMed:10368977,
ECO:0000269|PubMed:1554716}.
MOD_RES 1699 1699 Sulfotyrosine.
{ECO:0000269|PubMed:10368977,
ECO:0000269|PubMed:1554716,
ECO:0000269|PubMed:1898735}.
CARBOHYD 60 60 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 258 258 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 601 601 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:16335952}.
CARBOHYD 776 776 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 803 803 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 847 847 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 919 919 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 962 962 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 982 982 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1020 1020 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1024 1024 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1074 1074 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1085 1085 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1204 1204 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1274 1274 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1278 1278 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1301 1301 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1319 1319 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1431 1431 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1461 1461 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 1829 1829 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 2137 2137 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 172 198 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 267 348 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 547 573 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 649 730 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 1851 1877 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 1918 1922 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 2040 2188 {ECO:0000255|PROSITE-ProRule:PRU00081,
ECO:0000269|PubMed:7613471}.
DISULFID 2193 2345 {ECO:0000255|PROSITE-ProRule:PRU00081}.
VAR_SEQ 1 8 MQIELSTC -> MRIQDPGK (in isoform 2).
{ECO:0000303|PubMed:1427887,
ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_042656.
VAR_SEQ 9 2143 Missing (in isoform 2).
{ECO:0000303|PubMed:1427887,
ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_042657.
VARIANT 19 19 S -> R (in HEMA).
{ECO:0000269|PubMed:10338101}.
/FTId=VAR_028447.
VARIANT 22 22 R -> T (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028448.
VARIANT 24 24 Y -> C (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028449.
VARIANT 25 25 Y -> C (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028450.
VARIANT 26 26 L -> P (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028451.
VARIANT 26 26 L -> R (in HEMA; severe;
dbSNP:rs137852377).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001045.
VARIANT 30 30 E -> V (in HEMA; mild;
dbSNP:rs137852378).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_001046.
VARIANT 33 33 W -> G (in HEMA; moderate).
{ECO:0000269|PubMed:9341862}.
/FTId=VAR_028452.
VARIANT 35 35 Y -> C (in HEMA; mild/severe;
dbSNP:rs137852476).
{ECO:0000269|PubMed:12351418}.
/FTId=VAR_028453.
VARIANT 35 35 Y -> H (in HEMA; severe).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028454.
VARIANT 41 41 G -> C (in HEMA; severe/moderate;
dbSNP:rs137852379).
/FTId=VAR_001047.
VARIANT 48 48 R -> C (in HEMA; severe).
/FTId=VAR_001048.
VARIANT 48 48 R -> K (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028455.
VARIANT 67 67 K -> E (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028456.
VARIANT 67 67 K -> N (in HEMA).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028457.
VARIANT 69 69 L -> P (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028458.
VARIANT 72 72 E -> K (in HEMA; moderate).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017330.
VARIANT 75 75 D -> E (in HEMA; moderate).
{ECO:0000269|PubMed:7759074}.
/FTId=VAR_028459.
VARIANT 75 75 D -> V (in dbSNP:rs1800288).
/FTId=VAR_001049.
VARIANT 75 75 D -> Y (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028460.
VARIANT 83 83 P -> R (in HEMA; dbSNP:rs781974394).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065303.
VARIANT 84 85 Missing (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028461.
VARIANT 85 85 Missing (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028462.
VARIANT 89 89 G -> D (in HEMA; severe;
dbSNP:rs137852380).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001050.
VARIANT 89 89 G -> V (in HEMA; mild).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_001051.
VARIANT 92 92 G -> A (in HEMA).
{ECO:0000269|PubMed:11442647}.
/FTId=VAR_028463.
VARIANT 92 92 G -> V (in HEMA; mild; dbSNP:rs28935204).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_028464.
VARIANT 97 97 A -> P (in HEMA).
{ECO:0000269|PubMed:12199686}.
/FTId=VAR_017331.
VARIANT 98 98 E -> K (in HEMA; severe).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028465.
VARIANT 99 99 V -> D (in HEMA; severe;
dbSNP:rs28935205).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001052.
VARIANT 101 101 D -> G (in HEMA; severe).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028466.
VARIANT 101 101 D -> H (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838}.
/FTId=VAR_028467.
VARIANT 101 101 D -> V (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028468.
VARIANT 104 104 V -> D (in HEMA; mild; dbSNP:rs28935206).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_001053.
VARIANT 108 108 K -> T (in HEMA; mild; dbSNP:rs28935207).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_001054.
VARIANT 110 110 M -> V (in HEMA; moderate;
dbSNP:rs28936083).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_001055.
VARIANT 111 111 A -> T (in HEMA; severe).
{ECO:0000269|PubMed:15682412}.
/FTId=VAR_028469.
VARIANT 111 111 A -> V (in HEMA; moderate).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028470.
VARIANT 113 113 H -> R (in HEMA; mild).
{ECO:0000269|PubMed:7579394}.
/FTId=VAR_028471.
VARIANT 113 113 H -> Y (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028472.
VARIANT 117 117 L -> F (in HEMA; mild;
dbSNP:rs782481755).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028473.
VARIANT 117 117 L -> R (in HEMA; severe;
dbSNP:rs28935208).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001056.
VARIANT 121 121 G -> S (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028474.
VARIANT 129 129 E -> V (in HEMA; severe).
{ECO:0000269|PubMed:9450898}.
/FTId=VAR_001057.
VARIANT 130 130 G -> R (in HEMA; severe;
dbSNP:rs137852387).
/FTId=VAR_001058.
VARIANT 132 132 E -> D (in HEMA; severe;
dbSNP:rs28935209).
{ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:9603440}.
/FTId=VAR_001059.
VARIANT 133 133 Y -> C (in HEMA; mild; dbSNP:rs28935210).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_001060.
VARIANT 135 135 D -> G (in HEMA; severe;
dbSNP:rs28935211).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001061.
VARIANT 135 135 D -> Y (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838}.
/FTId=VAR_028475.
VARIANT 137 137 T -> A (in HEMA; severe).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028476.
VARIANT 137 137 T -> I (in HEMA; moderate;
dbSNP:rs137852391).
/FTId=VAR_001062.
VARIANT 138 138 S -> R (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028477.
VARIANT 141 141 E -> K (in HEMA; severe familial).
{ECO:0000269|PubMed:11442643}.
/FTId=VAR_028478.
VARIANT 145 145 D -> H (in HEMA; moderate).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028479.
VARIANT 147 147 V -> D (in HEMA; severe).
{ECO:0000269|PubMed:12195713}.
/FTId=VAR_028480.
VARIANT 155 155 Y -> H (in HEMA; moderate).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017332.
VARIANT 159 159 V -> A (in HEMA; moderate).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028481.
VARIANT 163 163 N -> K (in HEMA; moderate).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028482.
VARIANT 164 164 G -> D (in HEMA; moderate).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028483.
VARIANT 164 164 G -> V (in HEMA; mild; dbSNP:rs28935212).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_001063.
VARIANT 165 165 P -> S (in HEMA; severe;
dbSNP:rs28935213).
/FTId=VAR_001064.
VARIANT 172 172 C -> W (in HEMA).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:12325022}.
/FTId=VAR_028484.
VARIANT 176 176 S -> P (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028485.
VARIANT 179 179 S -> P (in HEMA; moderate).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028486.
VARIANT 181 181 V -> E (in HEMA; mild).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017333.
VARIANT 181 181 V -> M (in HEMA; mild/moderate;
dbSNP:rs137852394).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11748850,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:7759074,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001065.
VARIANT 185 185 K -> T (in HEMA; mild;
dbSNP:rs137852395).
/FTId=VAR_001066.
VARIANT 186 186 D -> G (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028487.
VARIANT 186 186 D -> N (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065304.
VARIANT 186 186 D -> Y (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028488.
VARIANT 189 189 S -> L (in HEMA; moderate;
dbSNP:rs137852367).
{ECO:0000269|PubMed:2510835,
ECO:0000269|PubMed:8639447}.
/FTId=VAR_001067.
VARIANT 191 191 L -> F (in HEMA).
{ECO:0000269|PubMed:21371196}.
/FTId=VAR_065305.
VARIANT 193 193 G -> R (in HEMA; severe familial).
{ECO:0000269|PubMed:11341489}.
/FTId=VAR_028489.
VARIANT 195 195 L -> P (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065306.
VARIANT 198 198 C -> G (in HEMA; severe;
dbSNP:rs137852475).
{ECO:0000269|PubMed:12406074}.
/FTId=VAR_028490.
VARIANT 202 202 S -> N (in HEMA; mild).
{ECO:0000269|PubMed:7579394}.
/FTId=VAR_028491.
VARIANT 202 202 S -> R (in HEMA; mild).
{ECO:0000269|PubMed:10408784}.
/FTId=VAR_008123.
VARIANT 214 214 F -> V (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028492.
VARIANT 217 217 L -> H (in HEMA; moderate).
{ECO:0000269|PubMed:7794769}.
/FTId=VAR_028493.
VARIANT 219 219 A -> D (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028494.
VARIANT 219 219 A -> T (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028495.
VARIANT 220 220 V -> G (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028496.
VARIANT 222 222 D -> V (in HEMA; moderate;
dbSNP:rs137852396).
/FTId=VAR_001068.
VARIANT 223 223 E -> K (in HEMA; severe).
{ECO:0000269|PubMed:9569180}.
/FTId=VAR_028497.
VARIANT 224 224 G -> W (in HEMA; moderate;
dbSNP:rs137852397).
/FTId=VAR_001069.
VARIANT 252 252 T -> I (in HEMA; moderate).
{ECO:0000269|PubMed:12614369}.
/FTId=VAR_028498.
VARIANT 253 253 V -> F (in HEMA; severe).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001070.
VARIANT 254 254 N -> I (in HEMA; severe).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017334.
VARIANT 255 255 G -> V (in HEMA; severe).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015127.
VARIANT 261 261 L -> P (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065307.
VARIANT 262 262 P -> L (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028499.
VARIANT 263 263 G -> S (in HEMA).
{ECO:0000269|PubMed:8639447}.
/FTId=VAR_028500.
VARIANT 266 266 G -> E (in HEMA; severe;
dbSNP:rs137852398).
/FTId=VAR_001071.
VARIANT 267 267 C -> Y (in HEMA; moderate).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028501.
VARIANT 274 274 W -> C (in HEMA; dbSNP:rs34371500).
{ECO:0000269|PubMed:9326186}.
/FTId=VAR_028502.
VARIANT 275 275 H -> L (in HEMA; mild).
{ECO:0000269|PubMed:7579394}.
/FTId=VAR_028503.
VARIANT 278 278 G -> R (in HEMA; severe;
dbSNP:rs137852399).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001072.
VARIANT 280 280 G -> D (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065308.
VARIANT 284 284 E -> K (in HEMA; moderate).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028504.
VARIANT 285 285 V -> G (in HEMA; mild;
dbSNP:rs137852400).
{ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:7579394}.
/FTId=VAR_001073.
VARIANT 291 291 E -> G (in HEMA; mild;
dbSNP:rs137852359).
{ECO:0000269|PubMed:2835904}.
/FTId=VAR_001074.
VARIANT 291 291 E -> K (in HEMA; mild).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:1356412,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028505.
VARIANT 294 294 T -> I (in HEMA; moderate;
dbSNP:rs137852401).
/FTId=VAR_001075.
VARIANT 295 295 F -> L (in HEMA; moderate).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028506.
VARIANT 297 297 V -> A (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028507.
VARIANT 299 299 N -> I (in HEMA; mild; dbSNP:rs28935215).
{ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:8322269}.
/FTId=VAR_001076.
VARIANT 301 301 R -> C (in HEMA; severe/mild).
{ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:12195713,
ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:7579394}.
/FTId=VAR_028508.
VARIANT 301 301 R -> H (in HEMA; severe;
dbSNP:rs28935216).
{ECO:0000269|PubMed:10338101,
ECO:0000269|PubMed:10408784,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:1908096}.
/FTId=VAR_001077.
VARIANT 301 301 R -> L (in HEMA; severe;
dbSNP:rs137852403).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001078.
VARIANT 302 302 Missing (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028509.
VARIANT 303 303 A -> E (in HEMA; mild).
{ECO:0000269|PubMed:8759905,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028510.
VARIANT 303 303 A -> P (in HEMA; mild).
{ECO:0000269|PubMed:9029040}.
/FTId=VAR_028511.
VARIANT 307 307 I -> S (in HEMA; moderate).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028512.
VARIANT 308 308 S -> L (in HEMA; moderate;
dbSNP:rs28937268).
{ECO:0000269|PubMed:10338101,
ECO:0000269|PubMed:8449505,
ECO:0000269|PubMed:8759905}.
/FTId=VAR_001079.
VARIANT 312 312 F -> S (in HEMA; mild/moderate;
dbSNP:rs137852405).
{ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001080.
VARIANT 314 314 T -> A (in HEMA; mild; dbSNP:rs28937269).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_001081.
VARIANT 314 314 T -> I (in HEMA; moderate).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001082.
VARIANT 315 315 A -> V (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028513.
VARIANT 320 320 Missing (in HEMA; severe).
/FTId=VAR_028514.
VARIANT 323 323 G -> E (in HEMA; severe).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015128.
VARIANT 326 326 L -> P (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028515.
VARIANT 327 327 L -> P (in HEMA; severe;
dbSNP:rs28937270).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001083.
VARIANT 327 327 L -> V (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028516.
VARIANT 329 329 C -> F (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028517.
VARIANT 331 331 I -> V (in HEMA; mild).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001084.
VARIANT 339 339 M -> T (in HEMA; moderate).
{ECO:0000269|PubMed:11748850}.
/FTId=VAR_028518.
VARIANT 340 340 E -> K (in HEMA; dbSNP:rs781954986).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028519.
VARIANT 345 345 V -> A (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028520.
VARIANT 345 345 V -> L (in HEMA; severe;
dbSNP:rs137852371).
{ECO:0000269|PubMed:2107542}.
/FTId=VAR_001085.
VARIANT 348 348 C -> R (in HEMA; severe;
dbSNP:rs137852370).
{ECO:0000269|PubMed:2107542}.
/FTId=VAR_001086.
VARIANT 348 348 C -> S (in HEMA; moderate;
dbSNP:rs137852410).
/FTId=VAR_001087.
VARIANT 348 348 C -> Y (in HEMA; mild/severe).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_001088.
VARIANT 365 365 Y -> C (in HEMA; mild;
dbSNP:rs375241473).
{ECO:0000269|PubMed:11857744,
ECO:0000269|PubMed:15810915}.
/FTId=VAR_028521.
VARIANT 391 391 R -> C (in HEMA; Okayama; moderate/
severe; abolishes the normal cleavage by
thrombin; dbSNP:rs137852364).
{ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:1973901,
ECO:0000269|PubMed:2506948}.
/FTId=VAR_001089.
VARIANT 391 391 R -> H (in HEMA; Kumamoto; mild/moderate;
abolishes the normal cleavage by
thrombin; dbSNP:rs28935499).
{ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:2498882,
ECO:0000269|PubMed:8449505,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001090.
VARIANT 391 391 R -> P (in HEMA; severe; abolishes the
normal cleavage by thrombin).
/FTId=VAR_001091.
VARIANT 392 392 S -> L (in HEMA; mild; abolishes normal
cleavage by thrombin; dbSNP:rs28933668).
/FTId=VAR_001092.
VARIANT 392 392 S -> P (in HEMA; mild; dbSNP:rs28933669).
/FTId=VAR_001093.
VARIANT 394 394 A -> S (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065309.
VARIANT 401 401 W -> G (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028522.
VARIANT 405 405 I -> F (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028523.
VARIANT 405 405 I -> S (in HEMA; severe;
dbSNP:rs28933670).
/FTId=VAR_001094.
VARIANT 409 409 E -> G (in HEMA; severe/moderate;
dbSNP:rs28933671).
{ECO:0000269|PubMed:11410838}.
/FTId=VAR_001095.
VARIANT 412 412 W -> G (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028524.
VARIANT 412 412 W -> R (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028525.
VARIANT 427 427 K -> I (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028526.
VARIANT 431 431 L -> F (in HEMA; moderate;
dbSNP:rs28933672).
/FTId=VAR_001096.
VARIANT 431 431 L -> S (in HEMA; moderate).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028527.
VARIANT 437 437 R -> P (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028528.
VARIANT 437 437 R -> W (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028529.
VARIANT 438 438 I -> F (in HEMA; not severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028530.
VARIANT 439 439 G -> D (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028531.
VARIANT 439 439 G -> S (in HEMA; moderate).
{ECO:0000269|PubMed:12930394,
ECO:0000269|PubMed:25550078}.
/FTId=VAR_017335.
VARIANT 439 439 G -> V (in HEMA; severe).
{ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:9829908}.
/FTId=VAR_001097.
VARIANT 442 442 Y -> C (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028532.
VARIANT 444 444 K -> R (in HEMA; severe;
dbSNP:rs28937272).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_001098.
VARIANT 450 450 Y -> D (in HEMA; severe).
{ECO:0000269|PubMed:15682412}.
/FTId=VAR_028533.
VARIANT 450 450 Y -> N (in HEMA; mild/moderate;
dbSNP:rs28937273).
{ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:8322269,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001099.
VARIANT 454 454 T -> I (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028534.
VARIANT 455 455 F -> C (in HEMA; mild-moderate/severe).
{ECO:0000269|PubMed:11748850,
ECO:0000269|PubMed:11857744}.
/FTId=VAR_028535.
VARIANT 466 466 G -> E (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11442643}.
/FTId=VAR_028536.
VARIANT 470 470 P -> L (in HEMA; mild).
{ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028537.
VARIANT 470 470 P -> R (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028538.
VARIANT 470 470 P -> T (in HEMA; mild sporadic).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:15810915}.
/FTId=VAR_028539.
VARIANT 474 474 G -> E (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028540.
VARIANT 474 474 G -> R (in HEMA; severe).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001100.
VARIANT 474 474 G -> V (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065310.
VARIANT 475 475 E -> K (in HEMA; moderate).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028541.
VARIANT 477 477 G -> V (in HEMA; moderate).
{ECO:0000269|PubMed:12203998}.
/FTId=VAR_028542.
VARIANT 478 478 D -> N (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028543.
VARIANT 479 479 T -> R (in HEMA).
/FTId=VAR_028544.
VARIANT 484 484 F -> C (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028545.
VARIANT 488 488 A -> G (in HEMA; moderate;
dbSNP:rs782485864).
/FTId=VAR_001101.
VARIANT 490 490 R -> G (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028546.
VARIANT 492 492 Y -> C (in HEMA; moderate;
dbSNP:rs28937275).
{ECO:0000269|PubMed:9326186}.
/FTId=VAR_001103.
VARIANT 492 492 Y -> H (in HEMA; mild; dbSNP:rs28937274).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_001102.
VARIANT 494 494 I -> T (in HEMA; mild; dbSNP:rs28936968).
/FTId=VAR_001104.
VARIANT 496 496 P -> R (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065311.
VARIANT 498 498 G -> R (in HEMA; severe/moderate;
dbSNP:rs28936969).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:9326186,
ECO:0000269|PubMed:9603440}.
/FTId=VAR_001105.
VARIANT 503 503 R -> H (in HEMA; dbSNP:rs35383156).
{ECO:0000269|PubMed:11442643}.
/FTId=VAR_028547.
VARIANT 513 513 G -> S (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028548.
VARIANT 513 513 G -> V (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065312.
VARIANT 522 522 I -> Y (in HEMA; requires 2 nucleotide
substitutions).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028549.
VARIANT 529 529 K -> E (in HEMA; moderate).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017336.
VARIANT 532 532 W -> G (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028550.
VARIANT 540 540 P -> T (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028551.
VARIANT 541 541 T -> S (in HEMA; mild;
dbSNP:rs139526001).
{ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028552.
VARIANT 544 544 D -> N (in HEMA; moderate;
dbSNP:rs28937276).
/FTId=VAR_001106.
VARIANT 546 546 R -> W (in HEMA; mild; dbSNP:rs28937277).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11748850,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:8449505,
ECO:0000269|PubMed:9029040,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001107.
VARIANT 550 550 R -> C (in HEMA; mild/moderate;
dbSNP:rs28937278).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001108.
VARIANT 550 550 R -> G (in HEMA; mild;
dbSNP:rs137852417).
{ECO:0000269|PubMed:9452104}.
/FTId=VAR_001109.
VARIANT 550 550 R -> H (in HEMA; mild/moderate;
dbSNP:rs28937279).
{ECO:0000269|PubMed:8759905,
ECO:0000269|PubMed:9029040,
ECO:0000269|PubMed:9326186,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001110.
VARIANT 553 553 S -> P (in HEMA; severe).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028553.
VARIANT 554 554 S -> C (in HEMA; moderate).
{ECO:0000269|PubMed:11748850}.
/FTId=VAR_028554.
VARIANT 554 554 S -> G (in HEMA; mild;
dbSNP:rs137852419).
{ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:1301932}.
/FTId=VAR_001111.
VARIANT 556 556 V -> D (in HEMA; moderate).
/FTId=VAR_001112.
VARIANT 560 560 R -> T (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028555.
VARIANT 561 561 D -> G (in HEMA; severe;
dbSNP:rs137852420).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_028556.
VARIANT 561 561 D -> H (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028557.
VARIANT 561 561 D -> Y (in HEMA; severe).
{ECO:0000269|PubMed:10612839,
ECO:0000269|PubMed:12614369}.
/FTId=VAR_008967.
VARIANT 567 567 I -> T (in HEMA; mild;
dbSNP:rs782193428).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017337.
VARIANT 569 569 P -> R (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065313.
VARIANT 577 577 S -> F (in HEMA; mild; dbSNP:rs28937282).
{ECO:0000269|PubMed:8449505}.
/FTId=VAR_001113.
VARIANT 578 578 V -> A (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028558.
VARIANT 579 579 D -> A (in HEMA; mild).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028559.
VARIANT 579 579 D -> H (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028560.
VARIANT 583 583 N -> S (in HEMA; mild;
dbSNP:rs782657516).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028561.
VARIANT 584 584 Q -> H (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028562.
VARIANT 584 584 Q -> K (in HEMA; moderate;
dbSNP:rs137852422).
/FTId=VAR_001114.
VARIANT 584 584 Q -> R (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028563.
VARIANT 585 585 I -> R (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028564.
VARIANT 585 585 I -> T (in HEMA; severe/moderate;
dbSNP:rs137852376).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_001115.
VARIANT 586 586 M -> V (in HEMA; mild).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015129.
VARIANT 588 588 D -> G (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028565.
VARIANT 588 588 D -> Y (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028566.
VARIANT 594 594 L -> Q (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028567.
VARIANT 596 596 S -> P (in HEMA; severe;
dbSNP:rs137852423).
/FTId=VAR_001116.
VARIANT 601 601 N -> D (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028568.
VARIANT 601 601 N -> K (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028569.
VARIANT 602 602 R -> G (in HEMA; mild familial).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:15810915}.
/FTId=VAR_028570.
VARIANT 603 603 S -> I (in HEMA; dbSNP:rs137852425).
/FTId=VAR_001117.
VARIANT 603 603 S -> R (in HEMA; severe).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028571.
VARIANT 604 604 W -> C (in HEMA; severe;
dbSNP:rs137852426).
/FTId=VAR_001118.
VARIANT 605 605 Y -> H (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028572.
VARIANT 605 605 Y -> S (in HEMA; severe;
dbSNP:rs137852427).
/FTId=VAR_001119.
VARIANT 609 609 N -> I (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028573.
VARIANT 612 612 R -> C (in HEMA; mild/moderate; secretion
impaired; dbSNP:rs137852428).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:10691849,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:12195713,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:15682412,
ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:9569189}.
/FTId=VAR_001120.
VARIANT 631 631 N -> K (in HEMA; severe).
{ECO:0000269|PubMed:9450898}.
/FTId=VAR_001121.
VARIANT 631 631 N -> S (in HEMA; dbSNP:rs137852429).
/FTId=VAR_001122.
VARIANT 633 633 M -> I (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028574.
VARIANT 635 635 S -> N (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028575.
VARIANT 637 637 N -> D (in HEMA; severe sporadic/
moderate). {ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:7579394}.
/FTId=VAR_028576.
VARIANT 637 637 N -> I (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065314.
VARIANT 637 637 N -> S (in HEMA; mild; secretion
impaired). {ECO:0000269|PubMed:10691849}.
/FTId=VAR_028577.
VARIANT 639 639 Y -> C (in HEMA; moderate).
{ECO:0000269|PubMed:9341862}.
/FTId=VAR_028578.
VARIANT 644 644 L -> V (in HEMA; mild).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001123.
VARIANT 650 650 L -> F (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028579.
VARIANT 653 653 V -> A (in HEMA; mild;
dbSNP:rs137852430).
{ECO:0000269|PubMed:8449505}.
/FTId=VAR_001124.
VARIANT 653 653 V -> M (in HEMA; severe;
dbSNP:rs137852431).
{ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:8449505}.
/FTId=VAR_001125.
VARIANT 659 659 L -> P (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028580.
VARIANT 663 663 A -> V (in HEMA; mild;
dbSNP:rs137852433).
/FTId=VAR_001126.
VARIANT 664 664 Q -> P (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028581.
VARIANT 671 671 Missing (in HEMA; severe).
{ECO:0000269|PubMed:8449505}.
/FTId=VAR_001127.
VARIANT 677 677 F -> L (in HEMA; moderate;
dbSNP:rs137852434).
/FTId=VAR_001128.
VARIANT 681 681 M -> I (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028582.
VARIANT 682 682 V -> F (in HEMA).
{ECO:0000269|PubMed:9569189}.
/FTId=VAR_028583.
VARIANT 683 683 Y -> C (in HEMA; severe).
{ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:12871415}.
/FTId=VAR_028584.
VARIANT 683 683 Y -> N (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028585.
VARIANT 686 686 T -> R (in HEMA).
{ECO:0000269|PubMed:9326186}.
/FTId=VAR_028586.
VARIANT 698 698 F -> L (in HEMA).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028587.
VARIANT 699 699 M -> T (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028588.
VARIANT 699 699 M -> V (in HEMA; severe).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001129.
VARIANT 701 701 M -> I (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028589.
VARIANT 705 705 G -> V (in HEMA; moderate).
{ECO:0000269|PubMed:7794769}.
/FTId=VAR_028590.
VARIANT 710 710 G -> W (in HEMA).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028591.
VARIANT 713 713 N -> I (in HEMA; mild).
{ECO:0000269|PubMed:10886198}.
/FTId=VAR_028592.
VARIANT 717 717 R -> L (in HEMA; mild).
{ECO:0000269|PubMed:8759905}.
/FTId=VAR_028593.
VARIANT 717 717 R -> W (in HEMA; mild;
dbSNP:rs137852435).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:8759905}.
/FTId=VAR_001130.
VARIANT 720 720 G -> D (in HEMA; severe/moderate).
{ECO:0000269|PubMed:7759074,
ECO:0000269|PubMed:9603440}.
/FTId=VAR_001131.
VARIANT 720 720 G -> S (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028594.
VARIANT 721 721 M -> I (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028595.
VARIANT 721 721 M -> L (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028596.
VARIANT 723 723 A -> T (in HEMA; moderate;
dbSNP:rs137852436).
{ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:25550078,
ECO:0000269|PubMed:9452104}.
/FTId=VAR_001132.
VARIANT 725 725 L -> Q (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028597.
VARIANT 727 727 V -> F (in HEMA; severe).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001133.
VARIANT 739 739 E -> K (in HEMA; mild; dbSNP:rs28937285).
/FTId=VAR_001134.
VARIANT 742 742 Y -> C (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028598.
VARIANT 795 795 R -> G (in dbSNP:rs2228152).
/FTId=VAR_024380.
VARIANT 947 947 P -> R (in HEMA; dbSNP:rs782318401).
{ECO:0000269|PubMed:8639447}.
/FTId=VAR_028599.
VARIANT 1012 1012 V -> L (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028600.
VARIANT 1057 1057 E -> K (in HEMA; moderate;
dbSNP:rs28933673).
{ECO:0000269|PubMed:8639447}.
/FTId=VAR_001135.
VARIANT 1066 1066 H -> Y (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028601.
VARIANT 1260 1260 D -> E (in dbSNP:rs1800291).
{ECO:0000269|PubMed:12195713,
ECO:0000269|PubMed:8644728,
ECO:0000269|Ref.6}.
/FTId=VAR_001136.
VARIANT 1289 1289 K -> Q (in dbSNP:rs1800292).
/FTId=VAR_048438.
VARIANT 1336 1336 Q -> K (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028602.
VARIANT 1460 1460 N -> K (in HEMA).
{ECO:0000269|PubMed:8449505}.
/FTId=VAR_028603.
VARIANT 1481 1481 L -> P (in dbSNP:rs1800294).
/FTId=VAR_001137.
VARIANT 1610 1610 A -> S (in HEMA; dbSNP:rs782127226).
{ECO:0000269|PubMed:8639447}.
/FTId=VAR_028604.
VARIANT 1698 1698 I -> T (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028605.
VARIANT 1699 1699 Y -> C (in HEMA; severe).
/FTId=VAR_001138.
VARIANT 1699 1699 Y -> F (in HEMA; moderate;
dbSNP:rs28935203).
{ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:2105906}.
/FTId=VAR_001139.
VARIANT 1701 1701 E -> K (in HEMA; mild).
{ECO:0000269|PubMed:15810915}.
/FTId=VAR_028606.
VARIANT 1705 1705 Q -> H (in HEMA; mild sporadic).
{ECO:0000269|PubMed:11341489}.
/FTId=VAR_028607.
VARIANT 1708 1708 R -> C (in HEMA; East Hartford; severe/
moderate/mild; abolishes thrombin
cleavage at the light chain;
dbSNP:rs111033613).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:1851341,
ECO:0000269|PubMed:2104766,
ECO:0000269|PubMed:2105906,
ECO:0000269|PubMed:2499363,
ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:8644728,
ECO:0000269|PubMed:9326186}.
/FTId=VAR_001140.
VARIANT 1708 1708 R -> H (in HEMA; mild; abolishes thrombin
cleavage at the light chain;
dbSNP:rs28937286).
{ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:1851341}.
/FTId=VAR_001141.
VARIANT 1714 1714 T -> S (in HEMA; moderate).
{ECO:0000269|PubMed:12203998}.
/FTId=VAR_028608.
VARIANT 1715 1715 R -> G (in HEMA; mild;
dbSNP:rs137852439).
{ECO:0000269|PubMed:1349567,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001142.
VARIANT 1720 1720 A -> V (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065315.
VARIANT 1723 1723 E -> K (in HEMA; severe;
dbSNP:rs137852373).
{ECO:0000269|PubMed:1908817}.
/FTId=VAR_001143.
VARIANT 1727 1727 D -> V (in HEMA; mild).
{ECO:0000269|PubMed:11857744,
ECO:0000269|PubMed:15810915}.
/FTId=VAR_028609.
VARIANT 1728 1728 Y -> C (in HEMA; moderate;
dbSNP:rs137852362).
{ECO:0000269|PubMed:2106480}.
/FTId=VAR_001144.
VARIANT 1740 1740 R -> G (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028610.
VARIANT 1751 1751 K -> Q (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028611.
VARIANT 1762 1762 F -> L (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065316.
VARIANT 1768 1768 R -> H (in HEMA; dbSNP:rs151202877).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028612.
VARIANT 1769 1769 G -> R (in HEMA; mild;
dbSNP:rs137852440).
/FTId=VAR_001145.
VARIANT 1771 1771 L -> P (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028613.
VARIANT 1775 1775 L -> F (in HEMA; mild;
dbSNP:rs137852441).
/FTId=VAR_001147.
VARIANT 1775 1775 L -> V (in HEMA; moderate;
dbSNP:rs28937287).
/FTId=VAR_001146.
VARIANT 1777 1777 L -> P (in HEMA; moderate).
{ECO:0000269|PubMed:12203998}.
/FTId=VAR_028614.
VARIANT 1779 1779 G -> E (in HEMA; severe/moderate;
dbSNP:rs28937289).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_001148.
VARIANT 1779 1779 G -> R (in HEMA; severe).
{ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028615.
VARIANT 1780 1780 P -> L (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028616.
VARIANT 1782 1782 I -> R (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11341489}.
/FTId=VAR_028617.
VARIANT 1788 1788 D -> H (in HEMA; mild).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028618.
VARIANT 1791 1791 M -> T (in HEMA; severe;
dbSNP:rs137852375).
{ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001149.
VARIANT 1798 1798 A -> P (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028619.
VARIANT 1799 1799 S -> H (in HEMA; requires 2 nucleotide
substitutions).
/FTId=VAR_028620.
VARIANT 1800 1800 R -> C (in HEMA; moderate;
dbSNP:rs137852443).
{ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:1301960,
ECO:0000269|PubMed:9829908}.
/FTId=VAR_001151.
VARIANT 1800 1800 R -> G (in HEMA; mild;
dbSNP:rs137852443).
/FTId=VAR_001152.
VARIANT 1800 1800 R -> H (in HEMA; moderate/severe;
dbSNP:rs137852442).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:15682412,
ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:9341862,
ECO:0000269|PubMed:9450898,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001150.
VARIANT 1801 1801 P -> A (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028621.
VARIANT 1802 1802 Y -> C (in HEMA; moderate).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:15682412}.
/FTId=VAR_028622.
VARIANT 1803 1803 S -> Y (in HEMA; severe;
dbSNP:rs137852444).
{ECO:0000269|PubMed:1908096}.
/FTId=VAR_001153.
VARIANT 1804 1804 F -> S (in HEMA; severe).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017338.
VARIANT 1808 1808 L -> F (in HEMA; mild;
dbSNP:rs137852445).
{ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:7579394}.
/FTId=VAR_001154.
VARIANT 1828 1828 P -> L (in HEMA; mild; unknown
pathological significance; decreases
binding with VWF and phospholipid; no
effect on reaction with F9, F2 and F10;
decreases specific activity by 30%;
patient develops inhibitor
alloantibodies).
{ECO:0000269|PubMed:26278069}.
/FTId=VAR_075624.
VARIANT 1842 1842 M -> I (in HEMA; moderate;
dbSNP:rs28933674).
/FTId=VAR_001155.
VARIANT 1844 1844 P -> S (in HEMA; mild; dbSNP:rs28933675).
/FTId=VAR_001156.
VARIANT 1845 1845 T -> P (in HEMA; mild; dbSNP:rs28933676).
{ECO:0000269|PubMed:1639429}.
/FTId=VAR_001157.
VARIANT 1848 1848 E -> G (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028623.
VARIANT 1853 1853 A -> T (in HEMA; moderate/severe).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:7759074}.
/FTId=VAR_001158.
VARIANT 1853 1853 A -> V (in HEMA; mild; dbSNP:rs28933677).
/FTId=VAR_001159.
VARIANT 1858 1858 S -> C (in HEMA; moderate).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028624.
VARIANT 1864 1864 K -> E (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028625.
VARIANT 1865 1865 D -> N (in HEMA; severe;
dbSNP:rs28933678).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001160.
VARIANT 1865 1865 D -> Y (in HEMA; severe;
dbSNP:rs28933678).
/FTId=VAR_001161.
VARIANT 1867 1867 H -> P (in HEMA; mild).
{ECO:0000269|PubMed:7579394}.
/FTId=VAR_028626.
VARIANT 1867 1867 H -> R (in HEMA; moderate;
dbSNP:rs28933679).
/FTId=VAR_001162.
VARIANT 1869 1869 G -> D (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028627.
VARIANT 1869 1869 G -> V (in HEMA; severe).
{ECO:0000269|PubMed:10612839,
ECO:0000269|PubMed:12614369}.
/FTId=VAR_001163.
VARIANT 1872 1872 G -> E (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11341489}.
/FTId=VAR_028628.
VARIANT 1873 1873 P -> R (in HEMA; severe;
dbSNP:rs28933680).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_001164.
VARIANT 1875 1875 L -> P (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028629.
VARIANT 1876 1876 V -> L (in HEMA; mild).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028630.
VARIANT 1877 1877 C -> R (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028631.
VARIANT 1877 1877 C -> Y (in HEMA).
{ECO:0000269|PubMed:21371196}.
/FTId=VAR_065317.
VARIANT 1882 1882 L -> P (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028632.
VARIANT 1888 1888 R -> I (in HEMA; severe).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:7759074}.
/FTId=VAR_001165.
VARIANT 1894 1894 E -> G (in HEMA; moderate).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:9452104}.
/FTId=VAR_001166.
VARIANT 1901 1901 I -> F (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028633.
VARIANT 1904 1904 E -> D (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028634.
VARIANT 1904 1904 E -> K (in HEMA; severe;
dbSNP:rs28933681).
/FTId=VAR_001167.
VARIANT 1907 1907 S -> C (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028635.
VARIANT 1907 1907 S -> R (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028636.
VARIANT 1908 1908 W -> L (in HEMA; mild).
{ECO:0000269|PubMed:9341862}.
/FTId=VAR_028637.
VARIANT 1909 1909 Y -> C (in HEMA; moderate).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028638.
VARIANT 1939 1939 A -> T (in HEMA; severe).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028639.
VARIANT 1939 1939 A -> V (in HEMA; unknown pathological
significance).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028640.
VARIANT 1941 1941 N -> D (in HEMA; severe/moderate;
dbSNP:rs137852369).
{ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:2106480}.
/FTId=VAR_001168.
VARIANT 1941 1941 N -> S (in HEMA; severe/moderate;
dbSNP:rs28933682).
{ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:1908096}.
/FTId=VAR_001169.
VARIANT 1942 1942 G -> A (in HEMA; moderate).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015130.
VARIANT 1945 1945 M -> V (in HEMA; moderate).
{ECO:0000269|PubMed:12195713}.
/FTId=VAR_028641.
VARIANT 1951 1951 L -> F (in HEMA; mild).
{ECO:0000269|PubMed:8759905}.
/FTId=VAR_028642.
VARIANT 1960 1960 R -> L (in HEMA; moderate;
dbSNP:rs28937294).
{ECO:0000269|PubMed:1301194}.
/FTId=VAR_001171.
VARIANT 1960 1960 R -> Q (in HEMA; mild/moderate;
dbSNP:rs28937294).
{ECO:0000269|PubMed:1356412,
ECO:0000269|PubMed:7579394,
ECO:0000269|PubMed:9326186,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001170.
VARIANT 1963 1963 L -> P (in HEMA; severe).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015131.
VARIANT 1965 1965 S -> I (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028643.
VARIANT 1966 1966 M -> I (in HEMA; mild).
{ECO:0000269|PubMed:9029040}.
/FTId=VAR_028644.
VARIANT 1966 1966 M -> V (in HEMA; mild).
{ECO:0000269|PubMed:15810915}.
/FTId=VAR_028645.
VARIANT 1967 1967 G -> D (in HEMA; moderate;
dbSNP:rs28937295).
/FTId=VAR_001172.
VARIANT 1968 1968 S -> R (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028646.
VARIANT 1971 1971 N -> T (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028647.
VARIANT 1973 1973 H -> L (in HEMA; mild).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:10554831}.
/FTId=VAR_028648.
VARIANT 1979 1979 G -> V (in HEMA; moderate;
dbSNP:rs137852450).
/FTId=VAR_001173.
VARIANT 1980 1980 H -> P (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028649.
VARIANT 1980 1980 H -> Y (in HEMA; mild;
dbSNP:rs137852451).
/FTId=VAR_001174.
VARIANT 1982 1982 F -> I (in HEMA; mild).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028650.
VARIANT 1985 1985 R -> Q (in HEMA; mild).
{ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_028651.
VARIANT 1994 1994 L -> P (in HEMA; moderate).
{ECO:0000269|PubMed:16805874}.
/FTId=VAR_028652.
VARIANT 1998 1998 Y -> C (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028653.
VARIANT 2000 2000 G -> A (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028654.
VARIANT 2004 2004 T -> R (in HEMA; sporadic).
{ECO:0000269|PubMed:11442643}.
/FTId=VAR_028655.
VARIANT 2007 2007 M -> I (in HEMA; mild).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028656.
VARIANT 2013 2013 G -> R (in HEMA).
{ECO:0000269|PubMed:21371196}.
/FTId=VAR_065318.
VARIANT 2015 2015 W -> C (in HEMA; moderate).
{ECO:0000269|PubMed:11858487}.
/FTId=VAR_028657.
VARIANT 2016 2016 R -> P (in HEMA; severe familial).
{ECO:0000269|PubMed:11341489}.
/FTId=VAR_028658.
VARIANT 2016 2016 R -> W (in HEMA; severe/moderate/mild;
dbSNP:rs137852453).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:7794769,
ECO:0000269|PubMed:8644728,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001175.
VARIANT 2018 2018 E -> G (in HEMA; moderate).
{ECO:0000269|PubMed:15810915}.
/FTId=VAR_028659.
VARIANT 2022 2022 G -> D (in HEMA; severe).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028660.
VARIANT 2028 2028 G -> R (in HEMA).
{ECO:0000269|PubMed:9569189}.
/FTId=VAR_028661.
VARIANT 2030 2030 S -> N (in HEMA; mild;
dbSNP:rs369414658).
{ECO:0000269|PubMed:9886318}.
/FTId=VAR_028662.
VARIANT 2035 2035 V -> A (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028663.
VARIANT 2036 2036 Y -> C (in HEMA; moderate).
{ECO:0000269|PubMed:11298607}.
/FTId=VAR_015132.
VARIANT 2038 2038 N -> S (in HEMA; mild/moderate;
dbSNP:rs137852454).
{ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:9886318}.
/FTId=VAR_001176.
VARIANT 2040 2040 C -> Y (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028664.
VARIANT 2045 2045 G -> E (in HEMA; mild).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028665.
VARIANT 2045 2045 G -> V (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:9569180}.
/FTId=VAR_028666.
VARIANT 2051 2051 I -> S (in HEMA; severe).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017339.
VARIANT 2056 2056 I -> N (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028667.
VARIANT 2058 2058 A -> P (in HEMA; moderate).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028668.
VARIANT 2065 2065 W -> R (in HEMA; moderate;
dbSNP:rs137852455).
{ECO:0000269|PubMed:1301932}.
/FTId=VAR_001177.
VARIANT 2067 2067 P -> L (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:15810915}.
/FTId=VAR_028669.
VARIANT 2070 2070 A -> V (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028670.
VARIANT 2082 2082 S -> N (in HEMA; severe).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028671.
VARIANT 2088 2088 S -> F (in HEMA; severe;
dbSNP:rs137852456).
/FTId=VAR_001178.
VARIANT 2093 2093 D -> G (in HEMA; mild;
dbSNP:rs137852457).
/FTId=VAR_001179.
VARIANT 2093 2093 D -> Y (in HEMA; severe familial).
{ECO:0000269|PubMed:11442643}.
/FTId=VAR_028672.
VARIANT 2101 2101 H -> D (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065319.
VARIANT 2105 2105 T -> N (in HEMA; moderate).
{ECO:0000269|PubMed:9603440}.
/FTId=VAR_001180.
VARIANT 2106 2106 Q -> E (in HEMA; mild).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028673.
VARIANT 2106 2106 Q -> P (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065320.
VARIANT 2106 2106 Q -> R (in HEMA; mild).
{ECO:0000269|PubMed:9341862}.
/FTId=VAR_028674.
VARIANT 2107 2107 G -> S (in HEMA; severe).
{ECO:0000269|PubMed:9452104}.
/FTId=VAR_001181.
VARIANT 2109 2109 R -> C (in HEMA; mild).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028675.
VARIANT 2117 2117 I -> F (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028676.
VARIANT 2117 2117 I -> S (in HEMA; mild-moderate; affinity
for VWF reduced 8-fold).
{ECO:0000269|PubMed:10910910}.
/FTId=VAR_028677.
VARIANT 2119 2119 Q -> R (in HEMA; moderate).
{ECO:0000269|PubMed:7794769}.
/FTId=VAR_028678.
VARIANT 2120 2120 F -> C (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028679.
VARIANT 2120 2120 F -> L (in HEMA; mild;
dbSNP:rs137852458).
/FTId=VAR_001182.
VARIANT 2124 2124 Y -> C (in HEMA; mild;
dbSNP:rs137852459).
{ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:9569189}.
/FTId=VAR_001183.
VARIANT 2135 2135 R -> P (in HEMA; severe;
dbSNP:rs137852366).
{ECO:0000269|PubMed:3122181}.
/FTId=VAR_001184.
VARIANT 2138 2138 S -> Y (in HEMA; moderate; affinity for
VWF reduced 80-fold; dbSNP:rs137852460).
{ECO:0000269|PubMed:10910910}.
/FTId=VAR_001185.
VARIANT 2141 2141 T -> N (in HEMA; severe).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017340.
VARIANT 2143 2143 M -> V (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065321.
VARIANT 2145 2145 F -> C (in HEMA; mild).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11857744}.
/FTId=VAR_028680.
VARIANT 2148 2148 N -> S (in HEMA; moderate).
{ECO:0000269|PubMed:10910910}.
/FTId=VAR_001186.
VARIANT 2157 2157 N -> D (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028681.
VARIANT 2162 2162 P -> L (in HEMA; severe).
{ECO:0000269|PubMed:15810915}.
/FTId=VAR_028682.
VARIANT 2169 2169 R -> C (in HEMA; mild;
dbSNP:rs782641941).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:12871415}.
/FTId=VAR_028683.
VARIANT 2169 2169 R -> H (in HEMA; severe/mild; affinity
for VWF reduced 3-fold;
dbSNP:rs137852461).
{ECO:0000269|PubMed:10338101,
ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:10896236,
ECO:0000269|PubMed:10910910,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:7579394,
ECO:0000269|PubMed:8639447,
ECO:0000269|PubMed:9326186,
ECO:0000269|PubMed:9569189,
ECO:0000269|PubMed:9829908}.
/FTId=VAR_001187.
VARIANT 2172 2172 P -> L (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065322.
VARIANT 2172 2172 P -> Q (in HEMA; moderate;
dbSNP:rs137852462).
{ECO:0000269|PubMed:10910910}.
/FTId=VAR_001188.
VARIANT 2172 2172 P -> R (in HEMA; severe).
{ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11410838}.
/FTId=VAR_015133.
VARIANT 2173 2173 T -> A (in HEMA; mild).
{ECO:0000269|PubMed:11857744}.
/FTId=VAR_028684.
VARIANT 2173 2173 T -> I (in HEMA; mild;
dbSNP:rs137852463).
{ECO:0000269|PubMed:1301960}.
/FTId=VAR_001189.
VARIANT 2174 2174 H -> D (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028685.
VARIANT 2178 2178 R -> C (in HEMA; mild/moderate;
dbSNP:rs137852464).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:11748850,
ECO:0000269|PubMed:12195713,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:7579394,
ECO:0000269|PubMed:8449505,
ECO:0000269|PubMed:9326186}.
/FTId=VAR_001190.
VARIANT 2178 2178 R -> H (in HEMA; mild;
dbSNP:rs137852465).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_001191.
VARIANT 2178 2178 R -> L (in HEMA; mild;
dbSNP:rs137852465).
/FTId=VAR_001192.
VARIANT 2182 2182 R -> C (in HEMA; severe/moderate;
dbSNP:rs137852467).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:12871415}.
/FTId=VAR_001193.
VARIANT 2182 2182 R -> H (in HEMA; severe/moderate;
dbSNP:rs137852466).
{ECO:0000269|PubMed:10215414,
ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11341489,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:11554935,
ECO:0000269|PubMed:15810915,
ECO:0000269|PubMed:9569189,
ECO:0000269|PubMed:9829908}.
/FTId=VAR_001194.
VARIANT 2182 2182 R -> P (in HEMA; moderate/severe).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028686.
VARIANT 2183 2183 M -> R (in HEMA; moderate).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028687.
VARIANT 2183 2183 M -> V (in HEMA; mild).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_001195.
VARIANT 2185 2185 L -> S (in HEMA; severe;
dbSNP:rs137852365).
{ECO:0000269|PubMed:11410838}.
/FTId=VAR_001196.
VARIANT 2185 2185 L -> W (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028688.
VARIANT 2192 2192 S -> I (in HEMA; mild;
dbSNP:rs782098979).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:11858487}.
/FTId=VAR_028689.
VARIANT 2193 2193 C -> G (in HEMA).
{ECO:0000269|PubMed:12199686}.
/FTId=VAR_017341.
VARIANT 2196 2196 P -> R (in HEMA).
/FTId=VAR_028690.
VARIANT 2198 2198 G -> V (in HEMA; severe sporadic).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:11442643}.
/FTId=VAR_028691.
VARIANT 2200 2200 E -> D (in HEMA).
{ECO:0000269|PubMed:9569189}.
/FTId=VAR_028692.
VARIANT 2204 2204 I -> T (in HEMA; mild).
{ECO:0000269|PubMed:9452104}.
/FTId=VAR_001197.
VARIANT 2209 2209 I -> N (in HEMA; moderate).
/FTId=VAR_001198.
VARIANT 2211 2211 A -> P (in HEMA; moderate;
dbSNP:rs137852468).
/FTId=VAR_001199.
VARIANT 2220 2220 A -> P (in HEMA; mild;
dbSNP:rs782548763).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028693.
VARIANT 2223 2223 Missing (in HEMA; severe/moderate).
/FTId=VAR_001200.
VARIANT 2224 2224 P -> L (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028695.
VARIANT 2224 2224 Missing (in HEMA; moderate).
{ECO:0000269|PubMed:1639429}.
/FTId=VAR_028694.
VARIANT 2228 2228 R -> G (in HEMA; severe;
dbSNP:rs137852355).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_001201.
VARIANT 2228 2228 R -> L (in HEMA; moderate;
dbSNP:rs137852358).
/FTId=VAR_001202.
VARIANT 2228 2228 R -> P (in HEMA; moderate-severe).
{ECO:0000269|PubMed:10896236}.
/FTId=VAR_028696.
VARIANT 2228 2228 R -> Q (in HEMA; severe/moderate;
dbSNP:rs137852358).
{ECO:0000269|PubMed:10338101,
ECO:0000269|PubMed:10800171,
ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11442643,
ECO:0000269|PubMed:1908096,
ECO:0000269|PubMed:2105106,
ECO:0000269|PubMed:2833855,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001203.
VARIANT 2229 2229 L -> F (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028697.
VARIANT 2242 2242 V -> M (in dbSNP:rs782654096).
{ECO:0000269|PubMed:8639447}.
/FTId=VAR_001204.
VARIANT 2248 2248 W -> C (in HEMA; moderate;
dbSNP:rs137852469).
{ECO:0000269|PubMed:10404764,
ECO:0000269|PubMed:1301932,
ECO:0000269|PubMed:9569189}.
/FTId=VAR_001205.
VARIANT 2248 2248 W -> S (in HEMA; moderate).
{ECO:0000269|PubMed:12614369}.
/FTId=VAR_028698.
VARIANT 2251 2251 V -> A (in HEMA; mild;
dbSNP:rs782479558).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:15682412}.
/FTId=VAR_028699.
VARIANT 2251 2251 V -> E (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028700.
VARIANT 2257 2257 M -> V (in dbSNP:rs1800297).
{ECO:0000269|PubMed:7579394,
ECO:0000269|PubMed:9569180,
ECO:0000269|Ref.6}.
/FTId=VAR_021356.
VARIANT 2262 2262 V -> VQ (in HEMA; moderate).
{ECO:0000269|PubMed:12930394}.
/FTId=VAR_017342.
VARIANT 2264 2264 T -> A (in HEMA).
{ECO:0000269|PubMed:9326186}.
/FTId=VAR_028701.
VARIANT 2265 2265 Q -> R (in HEMA; moderate;
dbSNP:rs137852470).
/FTId=VAR_001206.
VARIANT 2279 2279 F -> C (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:9569180}.
/FTId=VAR_028702.
VARIANT 2279 2279 F -> I (in HEMA; dbSNP:rs782717799).
{ECO:0000269|PubMed:9569189}.
/FTId=VAR_028703.
VARIANT 2281 2281 I -> T (in HEMA; severe).
{ECO:0000269|PubMed:7579394}.
/FTId=VAR_028704.
VARIANT 2286 2286 D -> G (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065323.
VARIANT 2290 2290 W -> L (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028705.
VARIANT 2304 2304 G -> V (in HEMA).
{ECO:0000269|PubMed:9326186}.
/FTId=VAR_028706.
VARIANT 2307 2307 D -> A (in HEMA; moderate/mild).
{ECO:0000269|PubMed:11298607,
ECO:0000269|PubMed:11554935}.
/FTId=VAR_015134.
VARIANT 2319 2319 P -> L (in HEMA; mild/severe;
dbSNP:rs137852472).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:12871415}.
/FTId=VAR_001207.
VARIANT 2319 2319 P -> S (in HEMA; mild;
dbSNP:rs137852374).
{ECO:0000269|PubMed:1908817,
ECO:0000269|PubMed:9829908}.
/FTId=VAR_001208.
VARIANT 2323 2323 R -> C (in HEMA; severe/moderate; may
cause reduced phospholipid binding;
dbSNP:rs137852473).
{ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:12325022,
ECO:0000269|PubMed:12871415,
ECO:0000269|PubMed:1908096}.
/FTId=VAR_001209.
VARIANT 2323 2323 R -> G (in HEMA; moderate).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028707.
VARIANT 2323 2323 R -> H (in HEMA; mild; may cause reduced
phospholipid binding; dbSNP:rs137852474).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_001210.
VARIANT 2323 2323 R -> L (in HEMA; mild).
{ECO:0000269|PubMed:11554935}.
/FTId=VAR_028708.
VARIANT 2326 2326 R -> G (in HEMA).
{ECO:0000269|PubMed:10404764}.
/FTId=VAR_028709.
VARIANT 2326 2326 R -> L (in HEMA; severe/moderate; may
cause reduced phospholipid binding;
dbSNP:rs137852360).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:11858487,
ECO:0000269|PubMed:2105106,
ECO:0000269|PubMed:2495245,
ECO:0000269|PubMed:8644728}.
/FTId=VAR_001211.
VARIANT 2326 2326 R -> P (in HEMA; severe sporadic).
{ECO:0000269|PubMed:11410838,
ECO:0000269|PubMed:11748850}.
/FTId=VAR_028710.
VARIANT 2326 2326 R -> Q (in HEMA; moderate/mild; may cause
reduced phospholipid binding;
dbSNP:rs137852360).
{ECO:0000269|PubMed:10338101,
ECO:0000269|PubMed:10910913,
ECO:0000269|PubMed:12195713,
ECO:0000269|PubMed:3012775}.
/FTId=VAR_001212.
VARIANT 2330 2330 Q -> P (in HEMA; severe).
{ECO:0000269|PubMed:11857744,
ECO:0000269|PubMed:12203998}.
/FTId=VAR_028711.
VARIANT 2332 2332 W -> R (in HEMA; severe).
{ECO:0000269|PubMed:10800171}.
/FTId=VAR_028712.
VARIANT 2336 2336 I -> F (in HEMA).
{ECO:0000269|PubMed:18184865}.
/FTId=VAR_065324.
VARIANT 2339 2339 R -> T (in HEMA; moderate).
{ECO:0000269|PubMed:10910913}.
/FTId=VAR_028713.
VARIANT 2344 2344 G -> C (in HEMA; moderate).
{ECO:0000269|PubMed:10612839,
ECO:0000269|PubMed:12614369}.
/FTId=VAR_008968.
VARIANT 2344 2344 G -> D (in HEMA).
{ECO:0000269|PubMed:21371196}.
/FTId=VAR_065325.
VARIANT 2344 2344 G -> S (in HEMA).
{ECO:0000269|PubMed:8644728}.
/FTId=VAR_028714.
VARIANT 2345 2345 C -> S (in HEMA).
{ECO:0000269|PubMed:12871415}.
/FTId=VAR_028715.
VARIANT 2345 2345 C -> Y (in HEMA).
{ECO:0000269|PubMed:12325022}.
/FTId=VAR_028716.
CONFLICT 768 768 P -> R (in Ref. 2; CAA25619).
{ECO:0000305}.
CONFLICT 1922 1922 C -> S (in Ref. 5; AAA52420).
{ECO:0000305}.
TURN 2199 2201 {ECO:0000244|PDB:3HNY}.
STRAND 2202 2204 {ECO:0000244|PDB:3HNY}.
HELIX 2206 2208 {ECO:0000244|PDB:3HNY}.
STRAND 2209 2212 {ECO:0000244|PDB:3HNY}.
STRAND 2215 2217 {ECO:0000244|PDB:1D7P}.
STRAND 2220 2222 {ECO:0000244|PDB:1D7P}.
HELIX 2224 2226 {ECO:0000244|PDB:3HNY}.
STRAND 2233 2235 {ECO:0000244|PDB:3HNY}.
STRAND 2249 2265 {ECO:0000244|PDB:3HNY}.
STRAND 2267 2269 {ECO:0000244|PDB:3HNY}.
STRAND 2272 2289 {ECO:0000244|PDB:3HNY}.
STRAND 2306 2310 {ECO:0000244|PDB:3HNY}.
STRAND 2312 2335 {ECO:0000244|PDB:3HNY}.
STRAND 2338 2346 {ECO:0000244|PDB:3HNY}.
SEQUENCE 2351 AA; 267009 MW; 75FB6A2955C74CB0 CRC64;
MQIELSTCFF LCLLRFCFSA TRRYYLGAVE LSWDYMQSDL GELPVDARFP PRVPKSFPFN
TSVVYKKTLF VEFTDHLFNI AKPRPPWMGL LGPTIQAEVY DTVVITLKNM ASHPVSLHAV
GVSYWKASEG AEYDDQTSQR EKEDDKVFPG GSHTYVWQVL KENGPMASDP LCLTYSYLSH
VDLVKDLNSG LIGALLVCRE GSLAKEKTQT LHKFILLFAV FDEGKSWHSE TKNSLMQDRD
AASARAWPKM HTVNGYVNRS LPGLIGCHRK SVYWHVIGMG TTPEVHSIFL EGHTFLVRNH
RQASLEISPI TFLTAQTLLM DLGQFLLFCH ISSHQHDGME AYVKVDSCPE EPQLRMKNNE
EAEDYDDDLT DSEMDVVRFD DDNSPSFIQI RSVAKKHPKT WVHYIAAEEE DWDYAPLVLA
PDDRSYKSQY LNNGPQRIGR KYKKVRFMAY TDETFKTREA IQHESGILGP LLYGEVGDTL
LIIFKNQASR PYNIYPHGIT DVRPLYSRRL PKGVKHLKDF PILPGEIFKY KWTVTVEDGP
TKSDPRCLTR YYSSFVNMER DLASGLIGPL LICYKESVDQ RGNQIMSDKR NVILFSVFDE
NRSWYLTENI QRFLPNPAGV QLEDPEFQAS NIMHSINGYV FDSLQLSVCL HEVAYWYILS
IGAQTDFLSV FFSGYTFKHK MVYEDTLTLF PFSGETVFMS MENPGLWILG CHNSDFRNRG
MTALLKVSSC DKNTGDYYED SYEDISAYLL SKNNAIEPRS FSQNSRHPST RQKQFNATTI
PENDIEKTDP WFAHRTPMPK IQNVSSSDLL MLLRQSPTPH GLSLSDLQEA KYETFSDDPS
PGAIDSNNSL SEMTHFRPQL HHSGDMVFTP ESGLQLRLNE KLGTTAATEL KKLDFKVSST
SNNLISTIPS DNLAAGTDNT SSLGPPSMPV HYDSQLDTTL FGKKSSPLTE SGGPLSLSEE
NNDSKLLESG LMNSQESSWG KNVSSTESGR LFKGKRAHGP ALLTKDNALF KVSISLLKTN
KTSNNSATNR KTHIDGPSLL IENSPSVWQN ILESDTEFKK VTPLIHDRML MDKNATALRL
NHMSNKTTSS KNMEMVQQKK EGPIPPDAQN PDMSFFKMLF LPESARWIQR THGKNSLNSG
QGPSPKQLVS LGPEKSVEGQ NFLSEKNKVV VGKGEFTKDV GLKEMVFPSS RNLFLTNLDN
LHENNTHNQE KKIQEEIEKK ETLIQENVVL PQIHTVTGTK NFMKNLFLLS TRQNVEGSYD
GAYAPVLQDF RSLNDSTNRT KKHTAHFSKK GEEENLEGLG NQTKQIVEKY ACTTRISPNT
SQQNFVTQRS KRALKQFRLP LEETELEKRI IVDDTSTQWS KNMKHLTPST LTQIDYNEKE
KGAITQSPLS DCLTRSHSIP QANRSPLPIA KVSSFPSIRP IYLTRVLFQD NSSHLPAASY
RKKDSGVQES SHFLQGAKKN NLSLAILTLE MTGDQREVGS LGTSATNSVT YKKVENTVLP
KPDLPKTSGK VELLPKVHIY QKDLFPTETS NGSPGHLDLV EGSLLQGTEG AIKWNEANRP
GKVPFLRVAT ESSAKTPSKL LDPLAWDNHY GTQIPKEEWK SQEKSPEKTA FKKKDTILSL
NACESNHAIA AINEGQNKPE IEVTWAKQGR TERLCSQNPP VLKRHQREIT RTTLQSDQEE
IDYDDTISVE MKKEDFDIYD EDENQSPRSF QKKTRHYFIA AVERLWDYGM SSSPHVLRNR
AQSGSVPQFK KVVFQEFTDG SFTQPLYRGE LNEHLGLLGP YIRAEVEDNI MVTFRNQASR
PYSFYSSLIS YEEDQRQGAE PRKNFVKPNE TKTYFWKVQH HMAPTKDEFD CKAWAYFSDV
DLEKDVHSGL IGPLLVCHTN TLNPAHGRQV TVQEFALFFT IFDETKSWYF TENMERNCRA
PCNIQMEDPT FKENYRFHAI NGYIMDTLPG LVMAQDQRIR WYLLSMGSNE NIHSIHFSGH
VFTVRKKEEY KMALYNLYPG VFETVEMLPS KAGIWRVECL IGEHLHAGMS TLFLVYSNKC
QTPLGMASGH IRDFQITASG QYGQWAPKLA RLHYSGSINA WSTKEPFSWI KVDLLAPMII
HGIKTQGARQ KFSSLYISQF IIMYSLDGKK WQTYRGNSTG TLMVFFGNVD SSGIKHNIFN
PPIIARYIRL HPTHYSIRST LRMELMGCDL NSCSMPLGME SKAISDAQIT ASSYFTNMFA
TWSPSKARLH LQGRSNAWRP QVNNPKEWLQ VDFQKTMKVT GVTTQGVKSL LTSMYVKEFL
ISSSQDGHQW TLFFQNGKVK VFQGNQDSFT PVVNSLDPPL LTRYLRIHPQ SWVHQIALRM
EVLGCEAQDL Y


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