FA8_HUMAN
ID FA8_HUMAN Reviewed; 2351 AA.
AC P00451; Q14286; Q5HY69;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 21-JUL-1986, sequence version 1.
DT 03-AUG-2022, entry version 265.
DE RecName: Full=Coagulation factor VIII;
DE AltName: Full=Antihemophilic factor;
DE Short=AHF;
DE AltName: Full=Procoagulant component;
DE Contains:
DE RecName: Full=Factor VIIIa heavy chain, 200 kDa isoform;
DE Contains:
DE RecName: Full=Factor VIIIa heavy chain, 92 kDa isoform;
DE Contains:
DE RecName: Full=Factor VIII B chain;
DE Contains:
DE RecName: Full=Factor VIIIa light chain;
DE Flags: Precursor;
GN Name=F8; Synonyms=F8C;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=3935400; DOI=10.1089/dna.1985.4.333;
RA Truett M.A., Blacher R., Burke R.L., Caput D., Chu C., Dina D., Hartog K.,
RA Kuo C.H., Masiarz F.R., Merryweather J.P., Najarian R., Pachl C.,
RA Potter S.J., Puma J., Quiroga M., Rall L.B., Randolph A., Urdea M.S.,
RA Valenzuela P., Dahl H.-H.M., Favalaro J., Hansen J., Nordfang O., Ezban M.;
RT "Characterization of the polypeptide composition of human factor VIII:C and
RT the nucleotide sequence and expression of the human kidney cDNA.";
RL DNA 4:333-349(1985).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=6438526; DOI=10.1038/312330a0;
RA Wood W.I., Capon D.J., Simonsen C.C., Eaton D.L., Gitschier J., Keyt B.,
RA Seeburg P.H., Smith D.H., Hollingshead P., Wion K.L., Delwart E.,
RA Tuddenham E.G.D., Vehar G.A., Lawn R.M.;
RT "Expression of active human factor VIII from recombinant DNA clones.";
RL Nature 312:330-337(1984).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND ALTERNATIVE SPLICING.
RX PubMed=1427887; DOI=10.1016/s0888-7543(05)80155-7;
RA Levinson B., Kenwrick S., Gamel P., Fisher K., Gitschier J.;
RT "Evidence for a third transcript from the human factor VIII gene.";
RL Genomics 14:585-589(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=6438528; DOI=10.1038/312342a0;
RA Toole J.J., Knopf J.L., Wozney J.M., Sultzman L.A., Buecker J.L.,
RA Pittman D.D., Kaufman R.J., Brown E., Shoemaker C., Orr E.C.,
RA Amphlett G.W., Foster W.B., Coe M.L., Knutson G.J., Fass D.N., Hewick R.M.;
RT "Molecular cloning of a cDNA encoding human antihaemophilic factor.";
RL Nature 312:342-347(1984).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1303178; DOI=10.1093/hmg/1.3.199;
RA Gitschier J., Wood W.I.;
RT "Sequence of the exon-containing regions of the human factor VIII gene.";
RL Hum. Mol. Genet. 1:199-200(1992).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLU-1260 AND VAL-2257.
RG SeattleSNPs variation discovery resource;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Hippocampus, and Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2064-2070.
RA de Water N.S., Williams R., Browett P.J.;
RT "Factor VIII gene normal intron 20 sequence.";
RL Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP PROTEIN SEQUENCE OF 356-378; 727-752 AND 1672-1708, AND SULFATION AT
RP TYR-365; TYR-737; TYR-738; TYR-742; TYR-1683 AND TYR-1699.
RX PubMed=10368977;
RX DOI=10.1002/(sici)1097-0231(19990615)13:11<1016::aid-rcm599>3.0.co;2-5;
RA Severs J.C., Carnine M., Eguizabal H., Mock K.K.;
RT "Characterization of tyrosine sulfate residues in antihemophilic
RT recombinant factor VIII by liquid chromatography electrospray ionization
RT tandem mass spectrometry and amino acid analysis.";
RL Rapid Commun. Mass Spectrom. 13:1016-1023(1999).
RN [13]
RP SULFATION AT TYR-1699.
RX PubMed=1898735; DOI=10.1016/s0021-9258(17)35234-1;
RA Leyte A., van Schijndel H.B., Niehrs C., Huttner W.B., Verbeet M.P.,
RA Mertens K., van Mourik J.A.;
RT "Sulfation of Tyr1680 of human blood coagulation factor VIII is essential
RT for the interaction of factor VIII with von Willebrand factor.";
RL J. Biol. Chem. 266:740-746(1991).
RN [14]
RP SULFATION AT TYR-365; TYR-1683 AND TYR-1699, AND INTERACTION WITH VWF.
RX PubMed=1554716; DOI=10.1021/bi00128a003;
RA Pittman D.D., Wang J.H., Kaufman R.J.;
RT "Identification and functional importance of tyrosine sulfate residues
RT within recombinant factor VIII.";
RL Biochemistry 31:3315-3325(1992).
RN [15]
RP INTERACTION WITH VWF.
RX PubMed=9218428; DOI=10.1074/jbc.272.29.18007;
RA Saenko E.L., Scandella D.;
RT "The acidic region of the factor VIII light chain and the C2 domain
RT together form the high affinity binding site for von Willebrand factor.";
RL J. Biol. Chem. 272:18007-18014(1997).
RN [16]
RP DISULFIDE BONDS.
RX PubMed=7613471; DOI=10.1002/pro.5560040413;
RA McMullen B.A., Fujikawa K., Davie E.W., Hedner U., Ezban M.;
RT "Locations of disulfide bonds and free cysteines in the heavy and light
RT chains of recombinant human factor VIII (antihemophilic factor A).";
RL Protein Sci. 4:740-746(1995).
RN [17]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J.,
RA Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [18]
RP PROTEOLYTIC CLEAVAGE.
RX PubMed=18217133; DOI=10.1160/th07-08-0495;
RA Gale A.J., Rozenshteyn D.;
RT "Cathepsin G, a leukocyte protease, activates coagulation factor VIII.";
RL Thromb. Haemost. 99:44-51(2008).
RN [19]
RP STRUCTURE BY NMR OF 2322-2343.
RX PubMed=7893714; DOI=10.1021/bi00009a033;
RA Gilbert G.E., Baleja J.D.;
RT "Membrane-binding peptide from the C2 domain of factor VIII forms an
RT amphipathic structure as determined by NMR spectroscopy.";
RL Biochemistry 34:3022-3031(1995).
RN [20]
RP REVIEW ON MOLECULAR BASIS OF HEMA.
RX PubMed=1902642; DOI=10.1111/j.1749-6632.1991.tb43694.x;
RA Gitschier J.;
RT "The molecular basis of hemophilia A.";
RL Ann. N. Y. Acad. Sci. 614:89-96(1991).
RN [21]
RP REVIEW ON MOLECULAR BASIS OF HEMA.
RX PubMed=2491949;
RA White G.C. II, Shoemaker C.B.;
RT "Factor VIII gene and hemophilia A.";
RL Blood 73:1-12(1989).
RN [22]
RP REVIEW ON MOLECULAR BASIS OF HEMA.
RX PubMed=7728145; DOI=10.1002/humu.1380050102;
RA Antonarakis S.E., Kazazian H.H. Jr., Tuddenham E.G.D.;
RT "Molecular etiology of factor VIII deficiency in hemophilia A.";
RL Hum. Mutat. 5:1-22(1995).
RN [23]
RP VARIANT HEMA GLN-2326.
RX PubMed=3012775; DOI=10.1126/science.3012775;
RA Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.;
RT "Identification of a missense mutation in the factor VIII gene of a mild
RT hemophiliac.";
RL Science 232:1415-1416(1986).
RN [24]
RP VARIANT HEMA PRO-2135.
RX PubMed=3122181; DOI=10.1093/nar/15.23.9797;
RA Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.;
RT "A novel missense mutation in the factor VIII gene identified by analysis
RT of amplified hemophilia DNA sequences.";
RL Nucleic Acids Res. 15:9797-9805(1987).
RN [25]
RP VARIANT HEMA GLN-2228.
RX PubMed=2833855;
RA Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.;
RT "Nonsense and missense mutations in hemophilia A: estimate of the relative
RT mutation rate at CG dinucleotides.";
RL Am. J. Hum. Genet. 42:718-725(1988).
RN [26]
RP VARIANT HEMA GLY-291.
RX PubMed=2835904;
RA Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr.,
RA Antonarakis S.E.;
RT "Moderately severe hemophilia A resulting from Glu-->Gly substitution in
RT exon 7 of the factor VIII gene.";
RL Am. J. Hum. Genet. 42:867-871(1988).
RN [27]
RP VARIANT HEMA CYS-1708.
RX PubMed=2499363;
RA O'Brien D.P., Tuddenham E.G.;
RT "Purification and characterization of factor VIII 1,689-Cys: a
RT nonfunctional cofactor occurring in a patient with severe hemophilia A.";
RL Blood 73:2117-2122(1989).
RN [28]
RP VARIANT HEMA CYS-391.
RX PubMed=2506948;
RA Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.;
RT "An arginine to cysteine amino acid substitution at a critical thrombin
RT cleavage site in a dysfunctional factor VIII molecule.";
RL Blood 74:1612-1617(1989).
RN [29]
RP VARIANT HEMA LEU-189.
RX PubMed=2510835;
RA Chan V., Chan T.K., Tong T.M., Todd D.;
RT "A novel missense mutation in exon 4 of the factor VIII:C gene resulting in
RT moderately severe hemophilia A.";
RL Blood 74:2688-2691(1989).
RN [30]
RP VARIANT HEMA LEU-2326.
RX PubMed=2495245; DOI=10.1007/bf00283686;
RA Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.;
RT "Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the
RT factor VIII gene.";
RL Hum. Genet. 81:335-338(1989).
RN [31]
RP VARIANT HEMA HIS-391.
RX PubMed=2498882; DOI=10.1073/pnas.86.11.4277;
RA Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr.,
RA Fujimaki M., Hoyer L.W.;
RT "Direct characterization of factor VIII in plasma: detection of a mutation
RT altering a thrombin cleavage site (arginine-372-->histidine).";
RL Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989).
RN [32]
RP VARIANT HEMA CYS-1708.
RX PubMed=2104766;
RA Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr.,
RA Phillips J.A. III, Janco R.L., Hoyer L.W.;
RT "Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in
RT the factor VIII gene of two unrelated patients with cross-reacting
RT material-positive hemophilia A.";
RL Blood 75:384-389(1990).
RN [33]
RP VARIANTS HEMA GLN-2228 AND LEU-2326.
RX PubMed=2105106;
RA Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G.,
RA Morfini M., de Biasi R., Baudo F., Carbonara A.;
RT "Recurrent mutations and three novel rearrangements in the factor VIII gene
RT of hemophilia A patients of Italian descent.";
RL Blood 75:662-670(1990).
RN [34]
RP VARIANT HEMA CYS-391.
RX PubMed=1973901; DOI=10.1111/j.1365-2141.1990.tb02618.x;
RA Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.;
RT "CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal
RT heavy chain thrombin cleavage site.";
RL Br. J. Haematol. 75:73-77(1990).
RN [35]
RP VARIANTS HEMA PHE-1699 AND CYS-1708.
RX PubMed=2105906; DOI=10.1016/0888-7543(90)90448-4;
RA Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K.,
RA Kazazian H.H. Jr., Antonarakis S.E.;
RT "Characterization of mutations in the factor VIII gene by direct sequencing
RT of amplified genomic DNA.";
RL Genomics 6:65-71(1990).
RN [36]
RP VARIANTS HEMA CYS-1728 AND ASP-1941.
RX PubMed=2106480; DOI=10.1016/0888-7543(90)90569-g;
RA Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E.,
RA Kazazian H.H. Jr.;
RT "Use of denaturing gradient gel electrophoresis to detect point mutations
RT in the factor VIII gene.";
RL Genomics 6:293-301(1990).
RN [37]
RP VARIANTS HEMA LEU-345 AND ARG-348.
RX PubMed=2107542; DOI=10.1073/pnas.87.6.2092;
RA Kogan S., Gitschier J.;
RT "Mutations and a polymorphism in the factor VIII gene discovered by
RT denaturing gradient gel electrophoresis.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990).
RN [38]
RP VARIANTS HEMA LYS-1723 AND SER-2319.
RX PubMed=1908817; DOI=10.1007/bf00197155;
RA Paynton C., Sarkar G., Sommer S.S.;
RT "Identification of mutations in two families with sporadic hemophilia A.";
RL Hum. Genet. 87:397-400(1991).
RN [39]
RP VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444;
RP HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941;
RP SER-1941; HIS-2169; GLN-2228 AND CYS-2323.
RX PubMed=1908096; DOI=10.1073/pnas.88.16.7405;
RA Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J.,
RA Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.;
RT "Molecular characterization of severe hemophilia A suggests that about half
RT the mutations are not within the coding regions and splice junctions of the
RT factor VIII gene.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991).
RN [40]
RP VARIANTS.
RX PubMed=1924291; DOI=10.1073/pnas.88.19.8307;
RA Higuchi M., Antonarakis S.E., Kasch L., Oldenburg J., Economou-Petersen E.,
RA Olek K., Arai M., Inaba H., Kazazian H.H. Jr.;
RT "Molecular characterization of mild-to-moderate hemophilia A: detection of
RT the mutation in 25 of 29 patients by denaturing gradient gel
RT electrophoresis.";
RL Proc. Natl. Acad. Sci. U.S.A. 88:8307-8311(1991).
RN [41]
RP VARIANTS HEMA CYS-1708 AND HIS-1708.
RX PubMed=1851341; DOI=10.1016/0049-3848(91)90098-h;
RA Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H.,
RA Brackmann H.H., Olek K.;
RT "Detection and characterisation of two missense mutations at a cleavage
RT site in the factor VIII light chain.";
RL Thromb. Res. 61:225-234(1991).
RN [42]
RP VARIANTS HEMA LYS-291 AND GLN-1960.
RX PubMed=1356412; DOI=10.1111/j.1365-2141.1992.tb08264.x;
RA Krepelova A., Vorlova Z., Acquila M., Mori P.;
RT "GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene
RT in two haemophilia A patients of Czech origin.";
RL Br. J. Haematol. 81:458-458(1992).
RN [43]
RP VARIANTS HEMA PRO-1845 AND PRO-2224 DEL.
RX PubMed=1639429; DOI=10.1016/0888-7543(92)90189-y;
RA Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.;
RT "Detection of mutations in the factor VIII gene using single-stranded
RT conformational polymorphism (SSCP).";
RL Genomics 13:909-911(1992).
RN [44]
RP VARIANT HEMA GLY-1715.
RX PubMed=1349567; DOI=10.1007/bf00207049;
RA Reiner A.P., Thompson A.R.;
RT "Screening for nonsense mutations in patients with severe hemophilia A can
RT provide rapid, direct carrier detection.";
RL Hum. Genet. 89:88-94(1992).
RN [45]
RP VARIANT HEMA LEU-1960.
RX PubMed=1301194; DOI=10.1002/humu.1380010114;
RA Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C.,
RA Delpech M.;
RT "A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible
RT for moderate hemophilia A.";
RL Hum. Mutat. 1:77-78(1992).
RN [46]
RP VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550;
RP GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178
RP AND CYS-2248.
RX PubMed=1301932; DOI=10.1002/humu.1380010312;
RA Diamond C., Kogan S., Levinson B., Gitschier J.;
RT "Amino acid substitutions in conserved domains of factor VIII and related
RT proteins: study of patients with mild and moderately severe hemophilia A.";
RL Hum. Mutat. 1:248-257(1992).
RN [47]
RP VARIANTS HEMA CYS-1800 AND ILE-2173.
RX PubMed=1301960; DOI=10.1002/humu.1380010610;
RA Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O.,
RA Gitschier J.;
RT "Missense mutations causing mild hemophilia A in Iceland detected by
RT denaturing gradient gel electrophoresis.";
RL Hum. Mutat. 1:506-508(1992).
RN [48]
RP VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671
RP DEL; LYS-1460 AND CYS-2178.
RX PubMed=8449505; DOI=10.1006/geno.1993.1073;
RA McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H.,
RA Antonarakis S.E.;
RT "Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.";
RL Genomics 15:392-398(1993).
RN [49]
RP VARIANTS HEMA ILE-299 AND ASN-450.
RX PubMed=8322269;
RA Pieneman W.C., Reitsma P.H., Briet E.;
RT "Double strand conformation polymorphism (DSCP) detects two point mutations
RT at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood
RT coagulation factor VIII gene.";
RL Thromb. Haemost. 69:473-475(1993).
RN [50]
RP VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637;
RP PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281, AND VARIANT
RP VAL-2257.
RX PubMed=7579394;
RA Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P.,
RA Annichino-Bizzacchi J.M., Brieet E., Costa F.F.;
RT "Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A
RT patients.";
RL Blood 86:3015-3020(1995).
RN [51]
RP VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705;
RP CYS-1708; TRP-2016 AND ARG-2119.
RX PubMed=7794769; DOI=10.1111/j.1365-2141.1995.tb05108.x;
RA Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.;
RT "Screening for mutations in haemophilia A patients by multiplex PCR-SSCP,
RT Southern blotting and RNA analysis: the detection of a genetic abnormality
RT in the factor VIII gene in 30 out of 35 patients.";
RL Br. J. Haematol. 90:442-449(1995).
RN [52]
RP VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888.
RX PubMed=7759074; DOI=10.1007/bf00223865;
RA Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.;
RT "Detection of mutations in ectopic factor VIII transcripts from nine
RT haemophilia A patients and the correlation with phenotype.";
RL Hum. Genet. 95:531-538(1995).
RN [53]
RP VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135;
RP ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012;
RP GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228;
RP LEU-2326 AND SER-2344.
RX PubMed=8644728;
RA Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W.,
RA Brackmann H.H., Grimm T., Olek K., Oldenburg J.;
RT "Characterization of the factor VIII defect in 147 patients with sporadic
RT hemophilia A: family studies indicate a mutation type-dependent sex ratio
RT of mutation frequencies.";
RL Am. J. Hum. Genet. 58:657-670(1996).
RN [54]
RP VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169,
RP AND VARIANT MET-2242.
RX PubMed=8639447; DOI=10.1046/j.1365-2141.1996.4981042.x;
RA Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.;
RT "Molecular characterization of haemophilia A in southern Chinese.";
RL Br. J. Haematol. 93:451-456(1996).
RN [55]
RP VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951.
RX PubMed=8759905; DOI=10.1046/j.1365-2141.1996.d01-1792.x;
RA Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.;
RT "Mutations in a subgroup of patients with mild haemophilia A and a familial
RT discrepancy between the one-stage and two-stage factor VIII:C methods.";
RL Br. J. Haematol. 94:400-406(1996).
RN [56]
RP VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966.
RX PubMed=9029040; DOI=10.1046/j.1365-2141.1997.d01-2008.x;
RA Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.;
RT "Mutations in the FVIII gene in seven families with mild haemophilia A.";
RL Br. J. Haematol. 96:426-427(1997).
RN [57]
RP VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708;
RP GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304.
RX PubMed=9326186; DOI=10.1046/j.1365-2141.1997.2963113.x;
RA Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H.,
RA Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.;
RT "Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced
RT haemophilia A patients by single-strand conformation polymorphism.";
RL Br. J. Haematol. 98:901-906(1997).
RN [58]
RP VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106.
RX PubMed=9341862; DOI=10.1007/s004390050543;
RA Tavassoli K., Eigel A., Pollmann H., Horst J.;
RT "Mutational analysis of ectopic factor VIII transcripts from hemophilia A
RT patients: identification of cryptic splice site, exon skipping and novel
RT point mutations.";
RL Hum. Genet. 100:508-511(1997).
RN [59]
RP VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164;
RP PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427;
RP TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550;
RP PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742;
RP THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901;
RP GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038.
RX PubMed=9886318; DOI=10.1046/j.1365-2141.1998.01122.x;
RA Liu M., Murphy M.E.P., Thompson A.R.;
RT "A domain mutations in 65 haemophilia A families and molecular modelling of
RT dysfunctional factor VIII proteins.";
RL Br. J. Haematol. 103:1051-1060(1998).
RN [60]
RP VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800.
RX PubMed=9450898;
RX DOI=10.1002/(sici)1098-1004(1998)11:1<18::aid-humu3>3.0.co;2-h;
RA Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C.,
RA Demaille J., Claustres M.;
RT "Protein truncation test: detection of severe haemophilia a mutation and
RT analysis of factor VIII transcripts.";
RL Hum. Mutat. 11:18-22(1998).
RN [61]
RP VARIANT HEMA HIS-2182.
RX PubMed=10215414;
RX DOI=10.1002/(sici)1098-1004(1998)11:4<334::aid-humu21>3.0.co;2-x;
RA Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr.,
RA Antonarakis S.E., Hill F.G.H.;
RT "Independent occurrence of the novel Arg2163 to His mutation in the factor
RT VIII gene in three unrelated families with haemophilia A with different
RT phenotypes.";
RL Hum. Mutat. 11:334-334(1998).
RN [62]
RP VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498;
RP VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105.
RX PubMed=9603440;
RX DOI=10.1002/(sici)1098-1004(1998)11:6<470::aid-humu8>3.0.co;2-a;
RA Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J.,
RA Cassiman J.-J., Matthijs G.;
RT "Fluorescent chemical cleavage of mismatches for efficient screening of the
RT factor VIII gene.";
RL Hum. Mutat. 11:470-479(1998).
RN [63]
RP VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204.
RX PubMed=9452104; DOI=10.1002/humu.1380110183;
RA Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.;
RT "Identification of four novel mutations in the factor VIII gene: three
RT missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion
RT (1780delTC).";
RL Hum. Mutat. Suppl. 1:S260-S262(1998).
RN [64]
RP VARIANTS HEMA.
RX PubMed=9792405;
RX DOI=10.1002/(sici)1098-1004(1998)12:5<301::aid-humu2>3.0.co;2-g;
RA Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.;
RT "Molecular diagnostics of 15 hemophilia A patients: characterization of
RT eight novel mutations in the factor VIII gene, two of which result in exon
RT skipping.";
RL Hum. Mutat. 12:301-303(1998).
RN [65]
RP VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319.
RX PubMed=9829908;
RX DOI=10.1002/(sici)1098-1004(1998)12:6<393::aid-humu5>3.0.co;2-a;
RA Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.;
RT "Use of denaturing gradient gel blots to screen for point mutations in the
RT factor VIII gene.";
RL Hum. Mutat. 12:393-402(1998).
RN [66]
RP VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, AND VARIANT VAL-2257.
RX PubMed=9569180;
RA Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G.,
RA Wright J., Peake I.R., Goodeve A.C.;
RT "Precise carrier diagnosis in families with haemophilia A: use of
RT conformation sensitive gel electrophoresis for mutation screening and
RT polymorphism analysis.";
RL Thromb. Haemost. 79:723-726(1998).
RN [67]
RP VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182;
RP ASP-2200; CYS-2248 AND ILE-2279.
RX PubMed=9569189;
RG UK haemophilia centre directors organisation;
RA Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E.,
RA Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P.,
RA Fijnvandraat K., Kasper C.K., White G., Santagostino E.;
RT "Factor VIII inhibitors in mild and moderate-severity haemophilia A.";
RL Thromb. Haemost. 79:762-766(1998).
RN [68]
RP VARIANT HEMA LEU-1973.
RX PubMed=10554831; DOI=10.1046/j.1365-2141.1999.01460.x;
RA Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.;
RT "Diagnostic importance of the two-stage factor VIII:C assay demonstrated by
RT a case of mild haemophilia associated with His1954-->Leu substitution in
RT the factor VIII A3 domain.";
RL Br. J. Haematol. 105:1123-1126(1999).
RN [69]
RP VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326.
RX PubMed=10338101;
RX DOI=10.1002/(sici)1098-1004(1999)13:5<413::aid-humu15>3.0.co;2-e;
RA Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.;
RT "Screen of 55 Slovenian haemophilia A patients: identification of 2 novel
RT mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum.";
RL Hum. Mutat. 13:413-413(1999).
RN [70]
RP VARIANTS HEMA ARG-202 AND HIS-301.
RX PubMed=10408784;
RX DOI=10.1002/(sici)1098-1004(1999)13:6<504::aid-humu15>3.0.co;2-6;
RA Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.;
RT "Mutational-screening in the factor VIII gene resulting in the
RT identification of three novel mutations, one of which is a donor splice
RT mutation.";
RL Hum. Mutat. 13:504-504(1999).
RN [71]
RP VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181;
RP VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412;
RP THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550;
RP HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605;
RP CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853;
RP GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040;
RP CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198;
RP CYS-2248 AND GLY-2326.
RX PubMed=10404764;
RG The haemophilia centres;
RA Waseem N.H., Bagnall R., Green P.M., Giannelli F.;
RT "Start of UK confidential haemophilia A database: analysis of 142 patients
RT by solid phase fluorescent chemical cleavage of mismatch.";
RL Thromb. Haemost. 81:900-905(1999).
RN [72]
RP VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, AND
RP CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169.
RX PubMed=10910910;
RA Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R.,
RA Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T.,
RA Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J.,
RA Saint-Remy J.-M.R.;
RT "A novel cause of mild/moderate hemophilia A: mutations scattered in the
RT factor VIII C1 domain reduce factor VIII binding to von Willebrand
RT factor.";
RL Blood 96:958-965(2000).
RN [73]
RP VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183;
RP ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND
RP THR-2339.
RX PubMed=10910913;
RA Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W.,
RA Stoddard B.L., Thompson A.R.;
RT "Hemophilic factor VIII C1- and C2-domain missense mutations and their
RT modeling to the 1.5-angstrom human C2-domain crystal structure.";
RL Blood 96:979-987(2000).
RN [74]
RP VARIANTS HEMA CYS-612 AND SER-637, AND CHARACTERIZATION OF VARIANTS HEMA
RP CYS-612 AND SER-637.
RX PubMed=10691849; DOI=10.1046/j.1365-2141.2000.01834.x;
RA Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A.,
RA Voorberg J.;
RT "Intracellular accumulation of factor VIII induced by missense mutations
RT Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced
RT haemophilia A.";
RL Br. J. Haematol. 108:241-246(2000).
RN [75]
RP VARIANT HEMA ILE-713.
RX PubMed=10886198; DOI=10.1046/j.1365-2141.2000.02021.x;
RA Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C.,
RA Hanfland P., Ingerslev J.;
RT "Assay discrepancy in mild haemophilia A due to a factor VIII missense
RT mutation (Asn694Ile) in a large Danish family.";
RL Br. J. Haematol. 109:523-528(2000).
RN [76]
RP VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND
RP ARG-2332.
RX PubMed=10800171;
RA Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A.,
RA Davoli P.;
RT "Experience of a single Italian center in genetic counseling for
RT hemophilia: from linkage analysis to molecular diagnosis.";
RL Haematologica 85:525-529(2000).
RN [77]
RP VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000;
RP HIS-2169 AND PRO-2228.
RX PubMed=10896236;
RG Recombinate PUP study group;
RA Goodeve A.C., Williams I., Bray G.L., Peake I.R.;
RT "Relationship between factor VIII mutation type and inhibitor development
RT in a cohort of previously untreated patients treated with recombinant
RT factor VIII (Recombinate).";
RL Thromb. Haemost. 83:844-848(2000).
RN [78]
RP VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344.
RX PubMed=10612839;
RX DOI=10.1002/(sici)1098-1004(200001)15:1<117::aid-humu27>3.0.co;2-e;
RA Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A.,
RA Thanootarakul P., Veerakul G., Mahasandana C., Panyim S.,
RA Yenchitsomanus P.;
RT "Mutations of the factor VIII gene in Thai hemophilia A patients.";
RL Hum. Mutat. 15:117-118(2000).
RN [79]
RP VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498;
RP ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182;
RP SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326.
RX PubMed=11410838; DOI=10.1086/321285;
RA Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A.,
RA Ljung R., Goodeve A., Peake I., Olek K.;
RT "Somatic mosaicism in hemophilia A: a fairly common event.";
RL Am. J. Hum. Genet. 69:75-87(2001).
RN [80]
RP VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708;
RP CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182;
RP GLN-2228 AND ALA-2307.
RX PubMed=11298607; DOI=10.1046/j.1365-2141.2001.02671.x;
RA Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K.,
RA Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.;
RT "Lithuanian haemophilia A and B registry comprising phenotypic and
RT genotypic data.";
RL Br. J. Haematol. 112:1062-1070(2001).
RN [81]
RP VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602;
RP THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182;
RP VAL-2198 AND GLN-2228.
RX PubMed=11442643; DOI=10.1046/j.1365-2516.2001.00528.x;
RA Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.;
RT "Site and type of mutations in the factor VIII gene in patients and
RT carriers of haemophilia A.";
RL Haemophilia 7:381-391(2001).
RN [82]
RP VARIANT HEMA ALA-92.
RX PubMed=11442647; DOI=10.1111/j.1365-2516.2001.00512.x;
RA Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.;
RT "Mild haemophilia A discovered in a previously multi-operated 73-year-old
RT man: characterization of a new mutation.";
RL Haemophilia 7:419-421(2001).
RN [83]
RP VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348;
RP LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788;
RP LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182;
RP ALA-2307 AND LEU-2323.
RX PubMed=11554935; DOI=10.1046/j.1365-2516.2001.00548.x;
RA Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K.,
RA Caglayan S.H.;
RT "Molecular pathology of haemophilia A in Turkish patients: identification
RT of 36 independent mutations.";
RL Haemophilia 7:475-481(2001).
RN [84]
RP VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND
RP PRO-2326.
RX PubMed=11748850; DOI=10.1002/humu.1234;
RA Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A.,
RA Horst J.;
RT "Seven novel and four recurrent point mutations in the factor VIII (F8C)
RT gene.";
RL Hum. Mutat. 18:546-546(2001).
RN [85]
RP VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782;
RP GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182.
RX PubMed=11341489;
RA Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.;
RT "Rapid hemophilia A molecular diagnosis by a simple DNA sequencing
RT procedure: identification of 14 novel mutations.";
RL Thromb. Haemost. 85:580-583(2001).
RN [86]
RP ERRATUM OF PUBMED:11341489.
RA Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.;
RL Thromb. Haemost. 86:727-727(2001).
RN [87]
RP VARIANT HEMA CYS-35.
RX PubMed=12351418; DOI=10.1182/blood-2002-01-0277;
RA Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M.,
RA Negrier C.;
RT "Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters
RT results in severe and mild hemophilia A.";
RL Blood 100:3034-3036(2002).
RN [88]
RP VARIANT HEMA GLY-198.
RX PubMed=12406074; DOI=10.1046/j.1365-2141.2002.03819.x;
RA Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.;
RT "Factor VIII deficiency not induced by FVIII gene mutation in a female
RT first cousin of two brothers with haemophilia A.";
RL Br. J. Haematol. 119:390-392(2002).
RN [89]
RP VARIANTS HEMA PRO-97 AND GLY-2193.
RX PubMed=12199686; DOI=10.1046/j.1365-2516.2002.00661.x;
RA Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S.,
RA Efremov G.D.;
RT "Three novel point mutations causing haemophilia A.";
RL Haemophilia 8:715-718(2002).
RN [90]
RP VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284;
RP VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650;
RP ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968;
RP CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND
RP PRO-2330.
RX PubMed=11857744; DOI=10.1002/humu.10056;
RA Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.;
RT "The identification and classification of 41 novel mutations in the factor
RT VIII gene (F8C).";
RL Hum. Mutat. 19:274-278(2002).
RN [91]
RP VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330.
RX PubMed=12203998; DOI=10.1002/humu.9052;
RA Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G.,
RA Morfini M., Torricelli F.;
RT "Identification of seven novel mutations of F8C by DHPLC.";
RL Hum. Mutat. 20:231-232(2002).
RN [92]
RP VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439;
RP CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875;
RP ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251;
RP LEU-2290; CYS-2323 AND TYR-2345.
RX PubMed=12325022; DOI=10.1002/humu.10119;
RA Citron M., Godmilow L., Ganguly T., Ganguly A.;
RT "High throughput mutation screening of the factor VIII gene (F8C) in
RT hemophilia A: 37 novel mutations and genotype-phenotype correlation.";
RL Hum. Mutat. 20:267-274(2002).
RN [93]
RP VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186;
RP GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541;
RP CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699;
RP ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800;
RP GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985;
RP CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326.
RX PubMed=11858487;
RA Liu M.-L., Nakaya S., Thompson A.R.;
RT "Non-inversion factor VIII mutations in 80 hemophilia A families including
RT 24 with alloimmune responses.";
RL Thromb. Haemost. 87:273-276(2002).
RN [94]
RP VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326,
RP AND VARIANT GLU-1260.
RX PubMed=12195713;
RA Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.;
RT "11 hemophilia A patients without mutations in the factor VIII encoding
RT gene.";
RL Thromb. Haemost. 88:357-360(2002).
RN [95]
RP VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567;
RP SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS.
RX PubMed=12930394; DOI=10.1046/j.1365-2141.2003.04494.x;
RA Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G.,
RA Molinari A.C., Rosano C., Acquila M.;
RT "Analysis of 18 novel mutations in the factor VIII gene.";
RL Br. J. Haematol. 122:810-817(2003).
RN [96]
RP VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540;
RP TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800;
RP ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178;
RP CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345.
RX PubMed=12871415; DOI=10.1046/j.1538-7836.2003.00149.x;
RA Habart D., Kalabova D., Novotny M., Vorlova Z.;
RT "Thirty-four novel mutations detected in factor VIII gene by multiplex
RT CSGE: modeling of 13 novel amino acid substitutions.";
RL J. Thromb. Haemost. 1:773-781(2003).
RN [97]
RP VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344.
RX PubMed=12614369; DOI=10.1046/j.1365-2516.2003.00729.x;
RA Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S.,
RA Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.;
RT "Genotype and phenotype of haemophilia A in Thai patients.";
RL Haemophilia 9:179-186(2003).
RN [98]
RP VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251.
RX PubMed=15682412; DOI=10.1002/ajh.20234;
RA Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D.,
RA Rosano C., Acquila M.;
RT "Small FVIII gene rearrangements in 18 hemophilia A patients: five novel
RT mutations.";
RL Am. J. Hematol. 78:117-122(2005).
RN [99]
RP VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701;
RP CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067;
RP LEU-2162 AND HIS-2182.
RX PubMed=15810915; DOI=10.1111/j.1365-2516.2005.01069.x;
RA Hill M., Deam S., Gordon B., Dolan G.;
RT "Mutation analysis in 51 patients with haemophilia A: report of 10 novel
RT mutations and correlations between genotype and clinical phenotype.";
RL Haemophilia 11:133-141(2005).
RN [100]
RP VARIANT HEMA PRO-1994.
RX PubMed=16805874; DOI=10.1111/j.1538-7836.2006.02105.x;
RA Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.;
RT "Female haemophilia A heterozygous for a de novo frameshift and a novel
RT missense mutation of factor VIII.";
RL J. Thromb. Haemost. 4:1969-1974(2006).
RN [101]
RP VARIANTS HEMA ARG-83; ASN-186; PRO-195; PRO-261; ASP-280; SER-394; VAL-474;
RP ARG-496; VAL-513; ARG-569; ILE-637; VAL-1720; LEU-1762; ASP-2101; PRO-2106;
RP VAL-2143; LEU-2172; GLY-2286 AND PHE-2336.
RX PubMed=18184865; DOI=10.1182/blood-2007-08-108068;
RA Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M.,
RA Baiget M., Fuentes-Prior P., Tizzano E.F.;
RT "Identification of 31 novel mutations in the F8 gene in Spanish hemophilia
RT A patients: structural analysis of 20 missense mutations suggests new
RT intermolecular binding sites.";
RL Blood 111:3468-3478(2008).
RN [102]
RP VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344.
RX PubMed=21371196; DOI=10.1111/j.1365-2516.2011.02500.x;
RA Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.;
RT "Identification of factor VIII gene mutations in patients with severe
RT haemophilia A in Venezuela: identification of seven novel mutations.";
RL Haemophilia 17:913-918(2011).
RN [103]
RP VARIANTS HEMA SER-439 AND THR-723.
RX PubMed=25550078; DOI=10.1177/1076029614562951;
RA Nair P.S., Shetty S., Ghosh K.;
RT "Factor VIII Antigen, Activity, and Mutations in Hemophilia A.";
RL Clin. Appl. Thromb. Hemost. 22:381-385(2016).
RN [104]
RP VARIANT HEMA LEU-1828, AND CHARACTERIZATION OF VARIANT HEMA LEU-1828.
RX PubMed=26278069; DOI=10.1111/jth.13118;
RA Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.;
RT "Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-
RT C2 antibody inhibiting allogeneic but not autologous factor VIII
RT activity.";
RL J. Thromb. Haemost. 13:1843-1853(2015).
CC -!- FUNCTION: Factor VIII, along with calcium and phospholipid, acts as a
CC cofactor for F9/factor IXa when it converts F10/factor X to the
CC activated form, factor Xa.
CC -!- SUBUNIT: Interacts with VWF/vWF. vWF binding is essential for the
CC stabilization of F8 in circulation. {ECO:0000269|PubMed:1554716,
CC ECO:0000269|PubMed:9218428}.
CC -!- INTERACTION:
CC P00451; P04275: VWF; NbExp=2; IntAct=EBI-1046394, EBI-981819;
CC P00451-2; Q8N7X4: MAGEB6; NbExp=3; IntAct=EBI-25852704, EBI-6447163;
CC P00451-2; Q8N488: RYBP; NbExp=3; IntAct=EBI-25852704, EBI-752324;
CC PRO_0000002967; P04275: VWF; NbExp=2; IntAct=EBI-21454065, EBI-981819;
CC PRO_0000002968; P00740: F9; NbExp=2; IntAct=EBI-11621603, EBI-9640450;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P00451-1; Sequence=Displayed;
CC Name=2; Synonyms=F8B;
CC IsoId=P00451-2; Sequence=VSP_042656, VSP_042657;
CC -!- DOMAIN: Domain F5/8 type C 2 is responsible for phospholipid-binding
CC and essential for factor VIII activity.
CC -!- PTM: Sulfation on Tyr-1699 is essential for binding vWF.
CC {ECO:0000269|PubMed:10368977, ECO:0000269|PubMed:1554716,
CC ECO:0000269|PubMed:1898735}.
CC -!- PTM: Proteolytically cleaved by cathepsin CTSG to produce a partially
CC activated form. {ECO:0000269|PubMed:18217133}.
CC -!- DISEASE: Hemophilia A (HEMA) [MIM:306700]: A disorder of blood
CC coagulation characterized by a permanent tendency to hemorrhage. About
CC 50% of patients have severe hemophilia resulting in frequent
CC spontaneous bleeding into joints, muscles and internal organs. Less
CC severe forms are characterized by bleeding after trauma or surgery.
CC {ECO:0000269|PubMed:10215414, ECO:0000269|PubMed:10338101,
CC ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:10408784,
CC ECO:0000269|PubMed:10554831, ECO:0000269|PubMed:10612839,
CC ECO:0000269|PubMed:10691849, ECO:0000269|PubMed:10800171,
CC ECO:0000269|PubMed:10886198, ECO:0000269|PubMed:10896236,
CC ECO:0000269|PubMed:10910910, ECO:0000269|PubMed:10910913,
CC ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11341489,
CC ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:11442643,
CC ECO:0000269|PubMed:11442647, ECO:0000269|PubMed:11554935,
CC ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:11857744,
CC ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:12195713,
CC ECO:0000269|PubMed:12199686, ECO:0000269|PubMed:12203998,
CC ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:12351418,
CC ECO:0000269|PubMed:12406074, ECO:0000269|PubMed:12614369,
CC ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:12930394,
CC ECO:0000269|PubMed:1301194, ECO:0000269|PubMed:1301932,
CC ECO:0000269|PubMed:1301960, ECO:0000269|PubMed:1349567,
CC ECO:0000269|PubMed:1356412, ECO:0000269|PubMed:15682412,
CC ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:1639429,
CC ECO:0000269|PubMed:16805874, ECO:0000269|PubMed:18184865,
CC ECO:0000269|PubMed:1851341, ECO:0000269|PubMed:1908096,
CC ECO:0000269|PubMed:1908817, ECO:0000269|PubMed:1973901,
CC ECO:0000269|PubMed:2104766, ECO:0000269|PubMed:2105106,
CC ECO:0000269|PubMed:2105906, ECO:0000269|PubMed:2106480,
CC ECO:0000269|PubMed:2107542, ECO:0000269|PubMed:21371196,
CC ECO:0000269|PubMed:2495245, ECO:0000269|PubMed:2498882,
CC ECO:0000269|PubMed:2499363, ECO:0000269|PubMed:2506948,
CC ECO:0000269|PubMed:2510835, ECO:0000269|PubMed:25550078,
CC ECO:0000269|PubMed:26278069, ECO:0000269|PubMed:2833855,
CC ECO:0000269|PubMed:2835904, ECO:0000269|PubMed:3012775,
CC ECO:0000269|PubMed:3122181, ECO:0000269|PubMed:7579394,
CC ECO:0000269|PubMed:7759074, ECO:0000269|PubMed:7794769,
CC ECO:0000269|PubMed:8322269, ECO:0000269|PubMed:8449505,
CC ECO:0000269|PubMed:8639447, ECO:0000269|PubMed:8644728,
CC ECO:0000269|PubMed:8759905, ECO:0000269|PubMed:9029040,
CC ECO:0000269|PubMed:9326186, ECO:0000269|PubMed:9341862,
CC ECO:0000269|PubMed:9450898, ECO:0000269|PubMed:9452104,
CC ECO:0000269|PubMed:9569180, ECO:0000269|PubMed:9569189,
CC ECO:0000269|PubMed:9603440, ECO:0000269|PubMed:9792405,
CC ECO:0000269|PubMed:9829908, ECO:0000269|PubMed:9886318}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry. Of particular interest for the understanding of the function of
CC F8 is the category of CRM (cross-reacting material) positive patients
CC (approximately 5%) that have considerable amount of F8 in their plasma
CC (at least 30% of normal), but the protein is non-functional; i.e. the
CC F8 activity is much less than the plasma protein level. CRM-reduced is
CC another category of patients in which the F8C antigen and activity are
CC reduced to approximately the same level. Most mutations are CRM
CC negative, and probably affect the folding and stability of the protein.
CC -!- PHARMACEUTICAL: Available under the names Kogenate (Bayer) and
CC Recombinate (Baxter and American Home Products). Used to treat
CC hemophilia A.
CC -!- SIMILARITY: Belongs to the multicopper oxidase family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Factor VIII entry;
CC URL="https://en.wikipedia.org/wiki/Factor_VIII";
CC -!- WEB RESOURCE: Name=Factor VIII variant database;
CC URL="http://www.factorviii-db.org/";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/f8/";
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DR EMBL; M14113; AAA52485.1; -; mRNA.
DR EMBL; X01179; CAA25619.1; -; mRNA.
DR EMBL; M90707; AAA58466.1; -; mRNA.
DR EMBL; K01740; AAA52484.1; -; mRNA.
DR EMBL; M88648; AAA52420.1; -; Genomic_DNA.
DR EMBL; M88628; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88629; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88630; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88631; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88632; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88633; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88634; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88635; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88636; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88638; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88639; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88640; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88641; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88642; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88643; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88644; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88645; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88646; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; M88647; AAA52420.1; JOINED; Genomic_DNA.
DR EMBL; AY769950; AAV85964.1; -; Genomic_DNA.
DR EMBL; AK289947; BAF82636.1; -; mRNA.
DR EMBL; AK313707; BAG36452.1; -; mRNA.
DR EMBL; AC109993; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX470111; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX842559; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX842564; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX890586; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471172; EAW72645.1; -; Genomic_DNA.
DR EMBL; BC022513; AAH22513.1; -; mRNA.
DR EMBL; BC064380; AAH64380.1; -; mRNA.
DR EMBL; BC098389; AAH98389.1; -; mRNA.
DR EMBL; BC111967; AAI11968.1; -; mRNA.
DR EMBL; BC111969; AAI11970.1; -; mRNA.
DR EMBL; U80228; AAB61261.1; -; Genomic_DNA.
DR CCDS; CCDS35457.1; -. [P00451-1]
DR CCDS; CCDS44026.1; -. [P00451-2]
DR PIR; I54318; EZHU.
DR RefSeq; NP_000123.1; NM_000132.3. [P00451-1]
DR RefSeq; NP_063916.1; NM_019863.2. [P00451-2]
DR PDB; 1CFG; NMR; -; A=2322-2343.
DR PDB; 1D7P; X-ray; 1.50 A; M=2190-2348.
DR PDB; 1FAC; NMR; -; A=2322-2342.
DR PDB; 1IQD; X-ray; 2.00 A; C=2193-2348.
DR PDB; 2R7E; X-ray; 3.70 A; A=19-760, B=1582-2351.
DR PDB; 3CDZ; X-ray; 3.98 A; A=20-764, B=1668-2351.
DR PDB; 3HNB; X-ray; 1.15 A; M=2189-2347.
DR PDB; 3HNY; X-ray; 1.07 A; M=2189-2347.
DR PDB; 3HOB; X-ray; 2.07 A; A/M=2189-2347.
DR PDB; 3J2Q; EM; 15.00 A; A=20-764, B=1668-2351.
DR PDB; 3J2S; EM; 15.00 A; B=1710-2351.
DR PDB; 4BDV; X-ray; 3.98 A; A=20-769, B=1667-2351.
DR PDB; 4KI5; X-ray; 2.47 A; M=2190-2351.
DR PDB; 4PT6; X-ray; 2.10 A; A/B=2190-2215, A/B=2222-2351.
DR PDB; 4XZU; X-ray; 2.61 A; G/M=2193-2346.
DR PDB; 5K8D; X-ray; 4.19 A; A=20-759, B=1713-2350.
DR PDB; 6MF0; X-ray; 3.20 A; A/B=406-761, A/B=2039-2351.
DR PDB; 6MF2; X-ray; 3.61 A; A=19-2351.
DR PDB; 7K66; X-ray; 3.92 A; A=406-761, A=2039-2351.
DR PDB; 7KWO; EM; 2.90 A; A=1-2351.
DR PDBsum; 1CFG; -.
DR PDBsum; 1D7P; -.
DR PDBsum; 1FAC; -.
DR PDBsum; 1IQD; -.
DR PDBsum; 2R7E; -.
DR PDBsum; 3CDZ; -.
DR PDBsum; 3HNB; -.
DR PDBsum; 3HNY; -.
DR PDBsum; 3HOB; -.
DR PDBsum; 3J2Q; -.
DR PDBsum; 3J2S; -.
DR PDBsum; 4BDV; -.
DR PDBsum; 4KI5; -.
DR PDBsum; 4PT6; -.
DR PDBsum; 4XZU; -.
DR PDBsum; 5K8D; -.
DR PDBsum; 6MF0; -.
DR PDBsum; 6MF2; -.
DR PDBsum; 7K66; -.
DR PDBsum; 7KWO; -.
DR AlphaFoldDB; P00451; -.
DR SMR; P00451; -.
DR BioGRID; 108455; 15.
DR ComplexPortal; CPX-6235; Coagulation factor VIIIa complex, heavy chain variant 2.
DR ComplexPortal; CPX-929; Coagulation factor VIIIa complex, heavy chain variant 1.
DR DIP; DIP-29774N; -.
DR IntAct; P00451; 12.
DR MINT; P00451; -.
DR STRING; 9606.ENSP00000353393; -.
DR BindingDB; P00451; -.
DR ChEMBL; CHEMBL3143; -.
DR DrugBank; DB13884; Albutrepenonacog alfa.
DR DrugBank; DB13151; Anti-inhibitor coagulant complex.
DR DrugBank; DB00100; Coagulation Factor IX (Recombinant).
DR DrugBank; DB13152; Coagulation Factor IX Human.
DR DrugBank; DB09130; Copper.
DR DrugBank; DB14700; Damoctocog alfa pegol.
DR DrugBank; DB00055; Drotrecogin alfa.
DR DrugBank; DB11571; Human thrombin.
DR DrugBank; DB13933; Nonacog beta pegol.
DR DrugBank; DB11312; Protein C.
DR DrugBank; DB06050; TB-402.
DR DrugBank; DB11300; Thrombin.
DR DrugBank; DB11572; Thrombin alfa.
DR DrugBank; DB13133; Von Willebrand factor human.
DR DrugBank; DB12872; Vonicog alfa.
DR Allergome; 9868; Hom s Factor VIII.
DR CarbonylDB; P00451; -.
DR GlyConnect; 99; 32 N-Linked glycans (10 sites).
DR GlyGen; P00451; 27 sites, 50 N-linked glycans (11 sites), 2 O-linked glycans (3 sites).
DR iPTMnet; P00451; -.
DR PhosphoSitePlus; P00451; -.
DR BioMuta; F8; -.
DR DMDM; 119767; -.
DR CPTAC; non-CPTAC-1099; -.
DR jPOST; P00451; -.
DR MassIVE; P00451; -.
DR PaxDb; P00451; -.
DR PeptideAtlas; P00451; -.
DR PRIDE; P00451; -.
DR ProteomicsDB; 51252; -. [P00451-1]
DR ProteomicsDB; 51253; -. [P00451-2]
DR ABCD; P00451; 21 sequenced antibodies.
DR Antibodypedia; 393; 1120 antibodies from 41 providers.
DR DNASU; 2157; -.
DR Ensembl; ENST00000330287.10; ENSP00000327895.6; ENSG00000185010.15. [P00451-2]
DR Ensembl; ENST00000360256.9; ENSP00000353393.4; ENSG00000185010.15. [P00451-1]
DR GeneID; 2157; -.
DR KEGG; hsa:2157; -.
DR MANE-Select; ENST00000360256.9; ENSP00000353393.4; NM_000132.4; NP_000123.1.
DR UCSC; uc004fms.4; human. [P00451-1]
DR CTD; 2157; -.
DR DisGeNET; 2157; -.
DR GeneCards; F8; -.
DR GeneReviews; F8; -.
DR HGNC; HGNC:3546; F8.
DR HPA; ENSG00000185010; Tissue enhanced (heart).
DR MalaCards; F8; -.
DR MIM; 134500; phenotype.
DR MIM; 300841; gene.
DR MIM; 306700; phenotype.
DR neXtProt; NX_P00451; -.
DR OpenTargets; ENSG00000185010; -.
DR Orphanet; 177926; Bleeding disorder in hemophilia A carriers.
DR Orphanet; 169808; Mild hemophilia A.
DR Orphanet; 169805; Moderate hemophilia A.
DR Orphanet; 169802; Severe hemophilia A.
DR PharmGKB; PA27952; -.
DR VEuPathDB; HostDB:ENSG00000185010; -.
DR eggNOG; ENOG502QSFZ; Eukaryota.
DR GeneTree; ENSGT00940000160294; -.
DR HOGENOM; CLU_030066_1_0_1; -.
DR InParanoid; P00451; -.
DR OMA; FPMTAVT; -.
DR OrthoDB; 454773at2759; -.
DR PhylomeDB; P00451; -.
DR TreeFam; TF329807; -.
DR PathwayCommons; P00451; -.
DR Reactome; R-HSA-114608; Platelet degranulation.
DR Reactome; R-HSA-140837; Intrinsic Pathway of Fibrin Clot Formation.
DR Reactome; R-HSA-140875; Common Pathway of Fibrin Clot Formation.
DR Reactome; R-HSA-163841; Gamma carboxylation, hypusine formation and arylsulfatase activation.
DR Reactome; R-HSA-204005; COPII-mediated vesicle transport.
DR Reactome; R-HSA-5694530; Cargo concentration in the ER.
DR Reactome; R-HSA-9672383; Defective factor IX causes thrombophilia.
DR Reactome; R-HSA-9672387; Defective F8 accelerates dissociation of the A2 domain.
DR Reactome; R-HSA-9672391; Defective F8 cleavage by thrombin.
DR Reactome; R-HSA-9672393; Defective F8 binding to von Willebrand factor.
DR Reactome; R-HSA-9672395; Defective F8 binding to the cell membrane.
DR Reactome; R-HSA-9672396; Defective cofactor function of FVIIIa variant.
DR Reactome; R-HSA-9672397; Defective F8 secretion.
DR Reactome; R-HSA-9673202; Defective F9 variant does not activate FX.
DR Reactome; R-HSA-9674519; Defective F8 sulfation at Y1699.
DR SABIO-RK; P00451; -.
DR SignaLink; P00451; -.
DR SIGNOR; P00451; -.
DR BioGRID-ORCS; 2157; 4 hits in 695 CRISPR screens.
DR ChiTaRS; F8; human.
DR EvolutionaryTrace; P00451; -.
DR GeneWiki; Factor_VIII; -.
DR GenomeRNAi; 2157; -.
DR Pharos; P00451; Tbio.
DR PRO; PR:P00451; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P00451; protein.
DR Bgee; ENSG00000185010; Expressed in left ventricle myocardium and 185 other tissues.
DR ExpressionAtlas; P00451; baseline and differential.
DR Genevisible; P00451; HS.
DR GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; TAS:Reactome.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR GO; GO:0016020; C:membrane; IC:ComplexPortal.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0031093; C:platelet alpha granule lumen; TAS:Reactome.
DR GO; GO:0032991; C:protein-containing complex; IPI:ComplexPortal.
DR GO; GO:1905370; C:serine-type endopeptidase complex; IC:ComplexPortal.
DR GO; GO:0005507; F:copper ion binding; IEA:InterPro.
DR GO; GO:0016491; F:oxidoreductase activity; IEA:InterPro.
DR GO; GO:0006953; P:acute-phase response; IEA:UniProtKB-KW.
DR GO; GO:0007596; P:blood coagulation; TAS:ProtInc.
DR GO; GO:0007597; P:blood coagulation, intrinsic pathway; IBA:GO_Central.
DR GO; GO:0006508; P:proteolysis; IDA:ComplexPortal.
DR GO; GO:0031638; P:zymogen activation; IC:ComplexPortal.
DR CDD; cd00057; FA58C; 2.
DR Gene3D; 2.60.40.420; -; 6.
DR InterPro; IPR001117; Cu-oxidase.
DR InterPro; IPR011706; Cu-oxidase_C.
DR InterPro; IPR045087; Cu-oxidase_fam.
DR InterPro; IPR011707; Cu-oxidase_N.
DR InterPro; IPR033138; Cu_oxidase_CS.
DR InterPro; IPR008972; Cupredoxin.
DR InterPro; IPR000421; FA58C.
DR InterPro; IPR024715; Factor_5/8-like.
DR InterPro; IPR008979; Galactose-bd-like_sf.
DR PANTHER; PTHR11709; PTHR11709; 3.
DR Pfam; PF00394; Cu-oxidase; 1.
DR Pfam; PF07731; Cu-oxidase_2; 1.
DR Pfam; PF07732; Cu-oxidase_3; 2.
DR Pfam; PF00754; F5_F8_type_C; 2.
DR PIRSF; PIRSF000354; Factors_V_VIII; 1.
DR SMART; SM00231; FA58C; 2.
DR SUPFAM; SSF49503; SSF49503; 6.
DR SUPFAM; SSF49785; SSF49785; 2.
DR PROSITE; PS01285; FA58C_1; 2.
DR PROSITE; PS01286; FA58C_2; 2.
DR PROSITE; PS50022; FA58C_3; 2.
DR PROSITE; PS00079; MULTICOPPER_OXIDASE1; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Acute phase; Alternative splicing; Blood coagulation;
KW Calcium; Direct protein sequencing; Disease variant; Disulfide bond;
KW Glycoprotein; Hemophilia; Hemostasis; Metal-binding; Pharmaceutical;
KW Reference proteome; Repeat; Secreted; Signal; Sulfation.
FT SIGNAL 1..19
FT CHAIN 20..2351
FT /note="Coagulation factor VIII"
FT /id="PRO_0000002967"
FT CHAIN 20..1332
FT /note="Factor VIIIa heavy chain, 200 kDa isoform"
FT /id="PRO_0000002968"
FT CHAIN 20..759
FT /note="Factor VIIIa heavy chain, 92 kDa isoform"
FT /id="PRO_0000002969"
FT CHAIN 760..1332
FT /note="Factor VIII B chain"
FT /id="PRO_0000002970"
FT CHAIN 1668..2351
FT /note="Factor VIIIa light chain"
FT /id="PRO_0000002971"
FT DOMAIN 20..348
FT /note="F5/8 type A 1"
FT DOMAIN 20..198
FT /note="Plastocyanin-like 1"
FT DOMAIN 206..348
FT /note="Plastocyanin-like 2"
FT DOMAIN 399..730
FT /note="F5/8 type A 2"
FT DOMAIN 399..573
FT /note="Plastocyanin-like 3"
FT DOMAIN 583..730
FT /note="Plastocyanin-like 4"
FT DOMAIN 1713..2040
FT /note="F5/8 type A 3"
FT DOMAIN 1713..1877
FT /note="Plastocyanin-like 5"
FT DOMAIN 1887..2040
FT /note="Plastocyanin-like 6"
FT DOMAIN 2040..2188
FT /note="F5/8 type C 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081"
FT DOMAIN 2193..2345
FT /note="F5/8 type C 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081"
FT REGION 760..1667
FT /note="B"
FT REGION 906..928
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 941..961
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 391..392
FT /note="Cleavage; by thrombin"
FT SITE 759..760
FT /note="Cleavage; by thrombin"
FT SITE 1332..1333
FT /note="Cleavage (activation)"
FT SITE 1667..1668
FT /note="Cleavage (activation)"
FT SITE 1708..1709
FT /note="Cleavage; by thrombin"
FT MOD_RES 365
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977,
FT ECO:0000269|PubMed:1554716"
FT MOD_RES 737
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977"
FT MOD_RES 738
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977"
FT MOD_RES 742
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977"
FT MOD_RES 1683
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977,
FT ECO:0000269|PubMed:1554716"
FT MOD_RES 1699
FT /note="Sulfotyrosine"
FT /evidence="ECO:0000269|PubMed:10368977,
FT ECO:0000269|PubMed:1554716, ECO:0000269|PubMed:1898735"
FT CARBOHYD 60
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 258
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 601
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:16335952"
FT CARBOHYD 776
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 803
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 847
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 919
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 962
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 982
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1020
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1024
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1074
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1085
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1204
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1274
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1278
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1301
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1319
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1431
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1461
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1829
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 2137
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 172..198
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 267..348
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 547..573
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 649..730
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 1851..1877
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 1918..1922
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 2040..2188
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081,
FT ECO:0000269|PubMed:7613471"
FT DISULFID 2193..2345
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00081"
FT VAR_SEQ 1..8
FT /note="MQIELSTC -> MRIQDPGK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:1427887,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_042656"
FT VAR_SEQ 9..2143
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:1427887,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_042657"
FT VARIANT 19
FT /note="S -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10338101"
FT /id="VAR_028447"
FT VARIANT 22
FT /note="R -> T (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028448"
FT VARIANT 24
FT /note="Y -> C (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028449"
FT VARIANT 25
FT /note="Y -> C (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028450"
FT VARIANT 26
FT /note="L -> P (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028451"
FT VARIANT 26
FT /note="L -> R (in HEMA; severe; dbSNP:rs137852377)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:8644728"
FT /id="VAR_001045"
FT VARIANT 30
FT /note="E -> V (in HEMA; mild; dbSNP:rs137852378)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_001046"
FT VARIANT 33
FT /note="W -> G (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9341862"
FT /id="VAR_028452"
FT VARIANT 35
FT /note="Y -> C (in HEMA; mild/severe; dbSNP:rs137852476)"
FT /evidence="ECO:0000269|PubMed:12351418"
FT /id="VAR_028453"
FT VARIANT 35
FT /note="Y -> H (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028454"
FT VARIANT 41
FT /note="G -> C (in HEMA; severe/moderate;
FT dbSNP:rs137852379)"
FT /id="VAR_001047"
FT VARIANT 48
FT /note="R -> C (in HEMA; severe)"
FT /id="VAR_001048"
FT VARIANT 48
FT /note="R -> K (in HEMA; dbSNP:rs1261929809)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028455"
FT VARIANT 67
FT /note="K -> E (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028456"
FT VARIANT 67
FT /note="K -> N (in HEMA)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028457"
FT VARIANT 69
FT /note="L -> P (in HEMA; moderate-severe;
FT dbSNP:rs944567323)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028458"
FT VARIANT 72
FT /note="E -> K (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017330"
FT VARIANT 75
FT /note="D -> E (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:7759074"
FT /id="VAR_028459"
FT VARIANT 75
FT /note="D -> V (in dbSNP:rs1800288)"
FT /id="VAR_001049"
FT VARIANT 75
FT /note="D -> Y (in HEMA; moderate-severe)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028460"
FT VARIANT 83
FT /note="P -> R (in HEMA; dbSNP:rs781974394)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065303"
FT VARIANT 84..85
FT /note="Missing (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028461"
FT VARIANT 85
FT /note="Missing (in HEMA; moderate; dbSNP:rs1218133483)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028462"
FT VARIANT 89
FT /note="G -> D (in HEMA; severe; dbSNP:rs137852380)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:8644728"
FT /id="VAR_001050"
FT VARIANT 89
FT /note="G -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_001051"
FT VARIANT 92
FT /note="G -> A (in HEMA)"
FT /evidence="ECO:0000269|PubMed:11442647"
FT /id="VAR_028463"
FT VARIANT 92
FT /note="G -> V (in HEMA; mild; dbSNP:rs137852381)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_028464"
FT VARIANT 97
FT /note="A -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12199686"
FT /id="VAR_017331"
FT VARIANT 98
FT /note="E -> K (in HEMA; severe; dbSNP:rs1296842178)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028465"
FT VARIANT 99
FT /note="V -> D (in HEMA; severe; dbSNP:rs137852382)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:8644728"
FT /id="VAR_001052"
FT VARIANT 101
FT /note="D -> G (in HEMA; severe; dbSNP:rs1312347909)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028466"
FT VARIANT 101
FT /note="D -> H (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:11410838"
FT /id="VAR_028467"
FT VARIANT 101
FT /note="D -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028468"
FT VARIANT 104
FT /note="V -> D (in HEMA; mild; dbSNP:rs137852383)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_001053"
FT VARIANT 108
FT /note="K -> T (in HEMA; mild; dbSNP:rs137852384)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_001054"
FT VARIANT 110
FT /note="M -> V (in HEMA; moderate; dbSNP:rs137852385)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_001055"
FT VARIANT 111
FT /note="A -> T (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:15682412"
FT /id="VAR_028469"
FT VARIANT 111
FT /note="A -> V (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028470"
FT VARIANT 113
FT /note="H -> R (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:7579394"
FT /id="VAR_028471"
FT VARIANT 113
FT /note="H -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028472"
FT VARIANT 117
FT /note="L -> F (in HEMA; mild; dbSNP:rs782481755)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028473"
FT VARIANT 117
FT /note="L -> R (in HEMA; severe; dbSNP:rs137852386)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001056"
FT VARIANT 121
FT /note="G -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028474"
FT VARIANT 129
FT /note="E -> V (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9450898"
FT /id="VAR_001057"
FT VARIANT 130
FT /note="G -> R (in HEMA; severe; dbSNP:rs137852387)"
FT /id="VAR_001058"
FT VARIANT 132
FT /note="E -> D (in HEMA; severe; dbSNP:rs137852388)"
FT /evidence="ECO:0000269|PubMed:11442643,
FT ECO:0000269|PubMed:9603440"
FT /id="VAR_001059"
FT VARIANT 133
FT /note="Y -> C (in HEMA; mild; dbSNP:rs137852389)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_001060"
FT VARIANT 135
FT /note="D -> G (in HEMA; severe; dbSNP:rs137852390)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001061"
FT VARIANT 135
FT /note="D -> Y (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:11410838"
FT /id="VAR_028475"
FT VARIANT 137
FT /note="T -> A (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028476"
FT VARIANT 137
FT /note="T -> I (in HEMA; moderate; dbSNP:rs137852391)"
FT /id="VAR_001062"
FT VARIANT 138
FT /note="S -> R (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028477"
FT VARIANT 141
FT /note="E -> K (in HEMA; severe familial;
FT dbSNP:rs1388356765)"
FT /evidence="ECO:0000269|PubMed:11442643"
FT /id="VAR_028478"
FT VARIANT 145
FT /note="D -> H (in HEMA; moderate; dbSNP:rs1433420305)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028479"
FT VARIANT 147
FT /note="V -> D (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:12195713"
FT /id="VAR_028480"
FT VARIANT 155
FT /note="Y -> H (in HEMA; moderate; dbSNP:rs1281943689)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017332"
FT VARIANT 159
FT /note="V -> A (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028481"
FT VARIANT 163
FT /note="N -> K (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028482"
FT VARIANT 164
FT /note="G -> D (in HEMA; moderate; dbSNP:rs137852392)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028483"
FT VARIANT 164
FT /note="G -> V (in HEMA; mild; dbSNP:rs137852392)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_001063"
FT VARIANT 165
FT /note="P -> S (in HEMA; severe; dbSNP:rs137852393)"
FT /id="VAR_001064"
FT VARIANT 172
FT /note="C -> W (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:12325022"
FT /id="VAR_028484"
FT VARIANT 176
FT /note="S -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028485"
FT VARIANT 179
FT /note="S -> P (in HEMA; moderate; dbSNP:rs1455943875)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028486"
FT VARIANT 181
FT /note="V -> E (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017333"
FT VARIANT 181
FT /note="V -> M (in HEMA; mild/moderate; dbSNP:rs137852394)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:7759074,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001065"
FT VARIANT 185
FT /note="K -> T (in HEMA; mild; dbSNP:rs137852395)"
FT /id="VAR_001066"
FT VARIANT 186
FT /note="D -> G (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028487"
FT VARIANT 186
FT /note="D -> N (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065304"
FT VARIANT 186
FT /note="D -> Y (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028488"
FT VARIANT 189
FT /note="S -> L (in HEMA; moderate; dbSNP:rs137852367)"
FT /evidence="ECO:0000269|PubMed:2510835,
FT ECO:0000269|PubMed:8639447"
FT /id="VAR_001067"
FT VARIANT 191
FT /note="L -> F (in HEMA; dbSNP:rs1341730743)"
FT /evidence="ECO:0000269|PubMed:21371196"
FT /id="VAR_065305"
FT VARIANT 193
FT /note="G -> R (in HEMA; severe familial)"
FT /evidence="ECO:0000269|PubMed:11341489"
FT /id="VAR_028489"
FT VARIANT 195
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065306"
FT VARIANT 198
FT /note="C -> G (in HEMA; severe; dbSNP:rs137852475)"
FT /evidence="ECO:0000269|PubMed:12406074"
FT /id="VAR_028490"
FT VARIANT 202
FT /note="S -> N (in HEMA; mild; dbSNP:rs1603436218)"
FT /evidence="ECO:0000269|PubMed:7579394"
FT /id="VAR_028491"
FT VARIANT 202
FT /note="S -> R (in HEMA; mild; dbSNP:rs1603436217)"
FT /evidence="ECO:0000269|PubMed:10408784"
FT /id="VAR_008123"
FT VARIANT 214
FT /note="F -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028492"
FT VARIANT 217
FT /note="L -> H (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:7794769"
FT /id="VAR_028493"
FT VARIANT 219
FT /note="A -> D (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028494"
FT VARIANT 219
FT /note="A -> T (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028495"
FT VARIANT 220
FT /note="V -> G (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028496"
FT VARIANT 222
FT /note="D -> V (in HEMA; moderate; dbSNP:rs137852396)"
FT /id="VAR_001068"
FT VARIANT 223
FT /note="E -> K (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9569180"
FT /id="VAR_028497"
FT VARIANT 224
FT /note="G -> W (in HEMA; moderate; dbSNP:rs137852397)"
FT /id="VAR_001069"
FT VARIANT 252
FT /note="T -> I (in HEMA; moderate; dbSNP:rs1464962436)"
FT /evidence="ECO:0000269|PubMed:12614369"
FT /id="VAR_028498"
FT VARIANT 253
FT /note="V -> F (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001070"
FT VARIANT 254
FT /note="N -> I (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017334"
FT VARIANT 255
FT /note="G -> V (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015127"
FT VARIANT 261
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065307"
FT VARIANT 262
FT /note="P -> L (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028499"
FT VARIANT 263
FT /note="G -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8639447"
FT /id="VAR_028500"
FT VARIANT 266
FT /note="G -> E (in HEMA; severe; dbSNP:rs137852398)"
FT /id="VAR_001071"
FT VARIANT 267
FT /note="C -> Y (in HEMA; moderate; dbSNP:rs1208703993)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028501"
FT VARIANT 274
FT /note="W -> C (in HEMA; dbSNP:rs34371500)"
FT /evidence="ECO:0000269|PubMed:9326186"
FT /id="VAR_028502"
FT VARIANT 275
FT /note="H -> L (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:7579394"
FT /id="VAR_028503"
FT VARIANT 278
FT /note="G -> R (in HEMA; severe; dbSNP:rs137852399)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001072"
FT VARIANT 280
FT /note="G -> D (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065308"
FT VARIANT 284
FT /note="E -> K (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028504"
FT VARIANT 285
FT /note="V -> G (in HEMA; mild; dbSNP:rs137852400)"
FT /evidence="ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:7579394"
FT /id="VAR_001073"
FT VARIANT 291
FT /note="E -> G (in HEMA; mild; dbSNP:rs137852359)"
FT /evidence="ECO:0000269|PubMed:2835904"
FT /id="VAR_001074"
FT VARIANT 291
FT /note="E -> K (in HEMA; mild; dbSNP:rs868988809)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:1356412,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_028505"
FT VARIANT 294
FT /note="T -> I (in HEMA; moderate; dbSNP:rs137852401)"
FT /id="VAR_001075"
FT VARIANT 295
FT /note="F -> L (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028506"
FT VARIANT 297
FT /note="V -> A (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028507"
FT VARIANT 299
FT /note="N -> I (in HEMA; mild; dbSNP:rs137852402)"
FT /evidence="ECO:0000269|PubMed:7794769,
FT ECO:0000269|PubMed:8322269"
FT /id="VAR_001076"
FT VARIANT 301
FT /note="R -> C (in HEMA; severe/mild; dbSNP:rs1401805753)"
FT /evidence="ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:7579394"
FT /id="VAR_028508"
FT VARIANT 301
FT /note="R -> H (in HEMA; severe; dbSNP:rs137852403)"
FT /evidence="ECO:0000269|PubMed:10338101,
FT ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:1908096"
FT /id="VAR_001077"
FT VARIANT 301
FT /note="R -> L (in HEMA; severe; dbSNP:rs137852403)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001078"
FT VARIANT 302
FT /note="Missing (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028509"
FT VARIANT 303
FT /note="A -> E (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:8759905,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_028510"
FT VARIANT 303
FT /note="A -> P (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9029040"
FT /id="VAR_028511"
FT VARIANT 307
FT /note="I -> S (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028512"
FT VARIANT 308
FT /note="S -> L (in HEMA; moderate; dbSNP:rs137852404)"
FT /evidence="ECO:0000269|PubMed:10338101,
FT ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:8759905"
FT /id="VAR_001079"
FT VARIANT 312
FT /note="F -> S (in HEMA; mild/moderate; dbSNP:rs137852405)"
FT /evidence="ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001080"
FT VARIANT 314
FT /note="T -> A (in HEMA; mild; dbSNP:rs137852406)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_001081"
FT VARIANT 314
FT /note="T -> I (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001082"
FT VARIANT 315
FT /note="A -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028513"
FT VARIANT 320
FT /note="Missing (in HEMA; severe)"
FT /id="VAR_028514"
FT VARIANT 323
FT /note="G -> E (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015128"
FT VARIANT 326
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028515"
FT VARIANT 327
FT /note="L -> P (in HEMA; severe; dbSNP:rs137852407)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:8644728"
FT /id="VAR_001083"
FT VARIANT 327
FT /note="L -> V (in HEMA; mild; dbSNP:rs1603435395)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028516"
FT VARIANT 329
FT /note="C -> F (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028517"
FT VARIANT 331
FT /note="I -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001084"
FT VARIANT 339
FT /note="M -> T (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11748850"
FT /id="VAR_028518"
FT VARIANT 340
FT /note="E -> K (in HEMA; dbSNP:rs781954986)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028519"
FT VARIANT 345
FT /note="V -> A (in HEMA; dbSNP:rs1189348665)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028520"
FT VARIANT 345
FT /note="V -> L (in HEMA; severe; dbSNP:rs137852371)"
FT /evidence="ECO:0000269|PubMed:2107542"
FT /id="VAR_001085"
FT VARIANT 348
FT /note="C -> R (in HEMA; severe; dbSNP:rs137852370)"
FT /evidence="ECO:0000269|PubMed:2107542"
FT /id="VAR_001086"
FT VARIANT 348
FT /note="C -> S (in HEMA; moderate; dbSNP:rs137852410)"
FT /id="VAR_001087"
FT VARIANT 348
FT /note="C -> Y (in HEMA; mild/severe)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_001088"
FT VARIANT 365
FT /note="Y -> C (in HEMA; mild; dbSNP:rs375241473)"
FT /evidence="ECO:0000269|PubMed:11857744,
FT ECO:0000269|PubMed:15810915"
FT /id="VAR_028521"
FT VARIANT 391
FT /note="R -> C (in HEMA; Okayama; moderate/severe; abolishes
FT the normal cleavage by thrombin; dbSNP:rs137852364)"
FT /evidence="ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:1973901,
FT ECO:0000269|PubMed:2506948"
FT /id="VAR_001089"
FT VARIANT 391
FT /note="R -> H (in HEMA; Kumamoto; mild/moderate; abolishes
FT the normal cleavage by thrombin; dbSNP:rs28935499)"
FT /evidence="ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:2498882,
FT ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:9886318"
FT /id="VAR_001090"
FT VARIANT 391
FT /note="R -> P (in HEMA; severe; abolishes the normal
FT cleavage by thrombin)"
FT /id="VAR_001091"
FT VARIANT 392
FT /note="S -> L (in HEMA; mild; abolishes normal cleavage by
FT thrombin; dbSNP:rs28933668)"
FT /id="VAR_001092"
FT VARIANT 392
FT /note="S -> P (in HEMA; mild; dbSNP:rs28933669)"
FT /id="VAR_001093"
FT VARIANT 394
FT /note="A -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065309"
FT VARIANT 401
FT /note="W -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028522"
FT VARIANT 405
FT /note="I -> F (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028523"
FT VARIANT 405
FT /note="I -> S (in HEMA; severe; dbSNP:rs28933670)"
FT /id="VAR_001094"
FT VARIANT 409
FT /note="E -> G (in HEMA; severe/moderate; dbSNP:rs28933671)"
FT /evidence="ECO:0000269|PubMed:11410838"
FT /id="VAR_001095"
FT VARIANT 412
FT /note="W -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028524"
FT VARIANT 412
FT /note="W -> R (in HEMA; severe; dbSNP:rs1234456704)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028525"
FT VARIANT 427
FT /note="K -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028526"
FT VARIANT 431
FT /note="L -> F (in HEMA; moderate; dbSNP:rs28933672)"
FT /id="VAR_001096"
FT VARIANT 431
FT /note="L -> S (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028527"
FT VARIANT 437
FT /note="R -> P (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028528"
FT VARIANT 437
FT /note="R -> W (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028529"
FT VARIANT 438
FT /note="I -> F (in HEMA; not severe; dbSNP:rs1258333672)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028530"
FT VARIANT 439
FT /note="G -> D (in HEMA; severe; dbSNP:rs1362305882)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028531"
FT VARIANT 439
FT /note="G -> S (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12930394,
FT ECO:0000269|PubMed:25550078"
FT /id="VAR_017335"
FT VARIANT 439
FT /note="G -> V (in HEMA; severe; dbSNP:rs1362305882)"
FT /evidence="ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:9829908"
FT /id="VAR_001097"
FT VARIANT 442
FT /note="Y -> C (in HEMA; dbSNP:rs1441830456)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028532"
FT VARIANT 444
FT /note="K -> R (in HEMA; severe; dbSNP:rs28937272)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_001098"
FT VARIANT 450
FT /note="Y -> D (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:15682412"
FT /id="VAR_028533"
FT VARIANT 450
FT /note="Y -> N (in HEMA; mild/moderate; dbSNP:rs111033616)"
FT /evidence="ECO:0000269|PubMed:7794769,
FT ECO:0000269|PubMed:8322269, ECO:0000269|PubMed:9886318"
FT /id="VAR_001099"
FT VARIANT 454
FT /note="T -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028534"
FT VARIANT 455
FT /note="F -> C (in HEMA; mild-moderate/severe;
FT dbSNP:rs1603435217)"
FT /evidence="ECO:0000269|PubMed:11748850,
FT ECO:0000269|PubMed:11857744"
FT /id="VAR_028535"
FT VARIANT 466
FT /note="G -> E (in HEMA; severe sporadic;
FT dbSNP:rs1304348198)"
FT /evidence="ECO:0000269|PubMed:11442643"
FT /id="VAR_028536"
FT VARIANT 470
FT /note="P -> L (in HEMA; mild; dbSNP:rs1240470740)"
FT /evidence="ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_028537"
FT VARIANT 470
FT /note="P -> R (in HEMA; mild; dbSNP:rs1240470740)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028538"
FT VARIANT 470
FT /note="P -> T (in HEMA; mild sporadic)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:15810915"
FT /id="VAR_028539"
FT VARIANT 474
FT /note="G -> E (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028540"
FT VARIANT 474
FT /note="G -> R (in HEMA; severe; dbSNP:rs1345538633)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001100"
FT VARIANT 474
FT /note="G -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065310"
FT VARIANT 475
FT /note="E -> K (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028541"
FT VARIANT 477
FT /note="G -> V (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12203998"
FT /id="VAR_028542"
FT VARIANT 478
FT /note="D -> N (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028543"
FT VARIANT 479
FT /note="T -> R (in HEMA)"
FT /id="VAR_028544"
FT VARIANT 484
FT /note="F -> C (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028545"
FT VARIANT 488
FT /note="A -> G (in HEMA; moderate; dbSNP:rs782485864)"
FT /id="VAR_001101"
FT VARIANT 490
FT /note="R -> G (in HEMA; dbSNP:rs1603435026)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028546"
FT VARIANT 492
FT /note="Y -> C (in HEMA; moderate; dbSNP:rs137852412)"
FT /evidence="ECO:0000269|PubMed:9326186"
FT /id="VAR_001103"
FT VARIANT 492
FT /note="Y -> H (in HEMA; mild; dbSNP:rs137852411)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_001102"
FT VARIANT 494
FT /note="I -> T (in HEMA; mild; dbSNP:rs137852413)"
FT /id="VAR_001104"
FT VARIANT 496
FT /note="P -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065311"
FT VARIANT 498
FT /note="G -> R (in HEMA; severe/moderate;
FT dbSNP:rs137852414)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:9326186,
FT ECO:0000269|PubMed:9603440"
FT /id="VAR_001105"
FT VARIANT 503
FT /note="R -> H (in HEMA; dbSNP:rs35383156)"
FT /evidence="ECO:0000269|PubMed:11442643"
FT /id="VAR_028547"
FT VARIANT 513
FT /note="G -> S (in HEMA; moderate; dbSNP:rs1269117966)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028548"
FT VARIANT 513
FT /note="G -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065312"
FT VARIANT 522
FT /note="I -> Y (in HEMA; requires 2 nucleotide
FT substitutions)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028549"
FT VARIANT 529
FT /note="K -> E (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017336"
FT VARIANT 532
FT /note="W -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028550"
FT VARIANT 540
FT /note="P -> T (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028551"
FT VARIANT 541
FT /note="T -> S (in HEMA; mild; dbSNP:rs139526001)"
FT /evidence="ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:9886318"
FT /id="VAR_028552"
FT VARIANT 544
FT /note="D -> N (in HEMA; moderate; dbSNP:rs137852415)"
FT /id="VAR_001106"
FT VARIANT 546
FT /note="R -> W (in HEMA; mild; dbSNP:rs137852416)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:12871415,
FT ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8449505,
FT ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9886318"
FT /id="VAR_001107"
FT VARIANT 550
FT /note="R -> C (in HEMA; mild/moderate; dbSNP:rs137852417)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11341489,
FT ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001108"
FT VARIANT 550
FT /note="R -> G (in HEMA; mild; dbSNP:rs137852417)"
FT /evidence="ECO:0000269|PubMed:9452104"
FT /id="VAR_001109"
FT VARIANT 550
FT /note="R -> H (in HEMA; mild/moderate; dbSNP:rs137852418)"
FT /evidence="ECO:0000269|PubMed:8759905,
FT ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9326186,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001110"
FT VARIANT 553
FT /note="S -> P (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028553"
FT VARIANT 554
FT /note="S -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11748850"
FT /id="VAR_028554"
FT VARIANT 554
FT /note="S -> G (in HEMA; mild; dbSNP:rs137852419)"
FT /evidence="ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:1301932"
FT /id="VAR_001111"
FT VARIANT 556
FT /note="V -> D (in HEMA; moderate)"
FT /id="VAR_001112"
FT VARIANT 560
FT /note="R -> T (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028555"
FT VARIANT 561
FT /note="D -> G (in HEMA; severe; dbSNP:rs137852420)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_028556"
FT VARIANT 561
FT /note="D -> H (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028557"
FT VARIANT 561
FT /note="D -> Y (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:10612839,
FT ECO:0000269|PubMed:12614369"
FT /id="VAR_008967"
FT VARIANT 567
FT /note="I -> T (in HEMA; mild; dbSNP:rs782193428)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017337"
FT VARIANT 569
FT /note="P -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065313"
FT VARIANT 577
FT /note="S -> F (in HEMA; mild; dbSNP:rs28937282)"
FT /evidence="ECO:0000269|PubMed:8449505"
FT /id="VAR_001113"
FT VARIANT 578
FT /note="V -> A (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028558"
FT VARIANT 579
FT /note="D -> A (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028559"
FT VARIANT 579
FT /note="D -> H (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028560"
FT VARIANT 583
FT /note="N -> S (in HEMA; mild; dbSNP:rs782657516)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028561"
FT VARIANT 584
FT /note="Q -> H (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028562"
FT VARIANT 584
FT /note="Q -> K (in HEMA; moderate; dbSNP:rs137852422)"
FT /id="VAR_001114"
FT VARIANT 584
FT /note="Q -> R (in HEMA; dbSNP:rs1354815715)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028563"
FT VARIANT 585
FT /note="I -> R (in HEMA; moderate-severe)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028564"
FT VARIANT 585
FT /note="I -> T (in HEMA; severe/moderate;
FT dbSNP:rs137852376)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_001115"
FT VARIANT 586
FT /note="M -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015129"
FT VARIANT 588
FT /note="D -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028565"
FT VARIANT 588
FT /note="D -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028566"
FT VARIANT 594
FT /note="L -> Q (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028567"
FT VARIANT 596
FT /note="S -> P (in HEMA; severe; dbSNP:rs137852423)"
FT /id="VAR_001116"
FT VARIANT 601
FT /note="N -> D (in HEMA; dbSNP:rs1460318222)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028568"
FT VARIANT 601
FT /note="N -> K (in HEMA; dbSNP:rs1299810903)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028569"
FT VARIANT 602
FT /note="R -> G (in HEMA; mild familial; dbSNP:rs137852424)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:15810915"
FT /id="VAR_028570"
FT VARIANT 603
FT /note="S -> I (in HEMA; dbSNP:rs137852425)"
FT /id="VAR_001117"
FT VARIANT 603
FT /note="S -> R (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_028571"
FT VARIANT 604
FT /note="W -> C (in HEMA; severe; dbSNP:rs137852426)"
FT /id="VAR_001118"
FT VARIANT 605
FT /note="Y -> H (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028572"
FT VARIANT 605
FT /note="Y -> S (in HEMA; severe; dbSNP:rs137852427)"
FT /id="VAR_001119"
FT VARIANT 609
FT /note="N -> I (in HEMA; moderate; dbSNP:rs1253524555)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028573"
FT VARIANT 612
FT /note="R -> C (in HEMA; mild/moderate; secretion impaired;
FT dbSNP:rs137852428)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:10691849, ECO:0000269|PubMed:11341489,
FT ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:15682412, ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:9569189"
FT /id="VAR_001120"
FT VARIANT 631
FT /note="N -> K (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9450898"
FT /id="VAR_001121"
FT VARIANT 631
FT /note="N -> S (in HEMA; dbSNP:rs137852429)"
FT /id="VAR_001122"
FT VARIANT 633
FT /note="M -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028574"
FT VARIANT 635
FT /note="S -> N (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028575"
FT VARIANT 637
FT /note="N -> D (in HEMA; severe sporadic/moderate)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:7579394"
FT /id="VAR_028576"
FT VARIANT 637
FT /note="N -> I (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065314"
FT VARIANT 637
FT /note="N -> S (in HEMA; mild; secretion impaired)"
FT /evidence="ECO:0000269|PubMed:10691849"
FT /id="VAR_028577"
FT VARIANT 639
FT /note="Y -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9341862"
FT /id="VAR_028578"
FT VARIANT 644
FT /note="L -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001123"
FT VARIANT 650
FT /note="L -> F (in HEMA; mild; dbSNP:rs1557280438)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028579"
FT VARIANT 653
FT /note="V -> A (in HEMA; mild; dbSNP:rs137852430)"
FT /evidence="ECO:0000269|PubMed:8449505"
FT /id="VAR_001124"
FT VARIANT 653
FT /note="V -> M (in HEMA; severe; dbSNP:rs137852431)"
FT /evidence="ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:8449505"
FT /id="VAR_001125"
FT VARIANT 659
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028580"
FT VARIANT 663
FT /note="A -> V (in HEMA; mild; dbSNP:rs137852433)"
FT /id="VAR_001126"
FT VARIANT 664
FT /note="Q -> P (in HEMA; moderate-severe)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028581"
FT VARIANT 671
FT /note="Missing (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:8449505"
FT /id="VAR_001127"
FT VARIANT 677
FT /note="F -> L (in HEMA; moderate; dbSNP:rs137852434)"
FT /id="VAR_001128"
FT VARIANT 681
FT /note="M -> I (in HEMA; mild; dbSNP:rs1603434460)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028582"
FT VARIANT 682
FT /note="V -> F (in HEMA; dbSNP:rs1569559755)"
FT /evidence="ECO:0000269|PubMed:9569189"
FT /id="VAR_028583"
FT VARIANT 683
FT /note="Y -> C (in HEMA; severe; dbSNP:rs1384374956)"
FT /evidence="ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:12871415"
FT /id="VAR_028584"
FT VARIANT 683
FT /note="Y -> N (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028585"
FT VARIANT 686
FT /note="T -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:9326186"
FT /id="VAR_028586"
FT VARIANT 698
FT /note="F -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028587"
FT VARIANT 699
FT /note="M -> T (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028588"
FT VARIANT 699
FT /note="M -> V (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001129"
FT VARIANT 701
FT /note="M -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028589"
FT VARIANT 705
FT /note="G -> V (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:7794769"
FT /id="VAR_028590"
FT VARIANT 710
FT /note="G -> W (in HEMA)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028591"
FT VARIANT 713
FT /note="N -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:10886198"
FT /id="VAR_028592"
FT VARIANT 717
FT /note="R -> L (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:8759905"
FT /id="VAR_028593"
FT VARIANT 717
FT /note="R -> W (in HEMA; mild; dbSNP:rs137852435)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:15810915,
FT ECO:0000269|PubMed:8759905"
FT /id="VAR_001130"
FT VARIANT 720
FT /note="G -> D (in HEMA; severe/moderate)"
FT /evidence="ECO:0000269|PubMed:7759074,
FT ECO:0000269|PubMed:9603440"
FT /id="VAR_001131"
FT VARIANT 720
FT /note="G -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028594"
FT VARIANT 721
FT /note="M -> I (in HEMA; severe; dbSNP:rs1218576358)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028595"
FT VARIANT 721
FT /note="M -> L (in HEMA; mild; dbSNP:rs1305924233)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028596"
FT VARIANT 723
FT /note="A -> T (in HEMA; moderate; dbSNP:rs137852436)"
FT /evidence="ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:25550078, ECO:0000269|PubMed:9452104"
FT /id="VAR_001132"
FT VARIANT 725
FT /note="L -> Q (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028597"
FT VARIANT 727
FT /note="V -> F (in HEMA; severe; dbSNP:rs1485277601)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001133"
FT VARIANT 739
FT /note="E -> K (in HEMA; mild; dbSNP:rs28937285)"
FT /id="VAR_001134"
FT VARIANT 742
FT /note="Y -> C (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028598"
FT VARIANT 795
FT /note="R -> G (in dbSNP:rs2228152)"
FT /id="VAR_024380"
FT VARIANT 947
FT /note="P -> R (in HEMA; dbSNP:rs782318401)"
FT /evidence="ECO:0000269|PubMed:8639447"
FT /id="VAR_028599"
FT VARIANT 1012
FT /note="V -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028600"
FT VARIANT 1057
FT /note="E -> K (in HEMA; moderate; dbSNP:rs28933673)"
FT /evidence="ECO:0000269|PubMed:8639447"
FT /id="VAR_001135"
FT VARIANT 1066
FT /note="H -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028601"
FT VARIANT 1260
FT /note="D -> E (in dbSNP:rs1800291)"
FT /evidence="ECO:0000269|PubMed:12195713,
FT ECO:0000269|PubMed:8644728, ECO:0000269|Ref.6"
FT /id="VAR_001136"
FT VARIANT 1289
FT /note="K -> Q (in dbSNP:rs1800292)"
FT /id="VAR_048438"
FT VARIANT 1336
FT /note="Q -> K (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028602"
FT VARIANT 1460
FT /note="N -> K (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8449505"
FT /id="VAR_028603"
FT VARIANT 1481
FT /note="L -> P (in dbSNP:rs1800294)"
FT /id="VAR_001137"
FT VARIANT 1610
FT /note="A -> S (in HEMA; dbSNP:rs782127226)"
FT /evidence="ECO:0000269|PubMed:8639447"
FT /id="VAR_028604"
FT VARIANT 1698
FT /note="I -> T (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028605"
FT VARIANT 1699
FT /note="Y -> C (in HEMA; severe)"
FT /id="VAR_001138"
FT VARIANT 1699
FT /note="Y -> F (in HEMA; moderate; dbSNP:rs28935203)"
FT /evidence="ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:2105906"
FT /id="VAR_001139"
FT VARIANT 1701
FT /note="E -> K (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:15810915"
FT /id="VAR_028606"
FT VARIANT 1705
FT /note="Q -> H (in HEMA; mild sporadic)"
FT /evidence="ECO:0000269|PubMed:11341489"
FT /id="VAR_028607"
FT VARIANT 1708
FT /note="R -> C (in HEMA; East Hartford; severe/moderate/
FT mild; abolishes thrombin cleavage at the light chain;
FT dbSNP:rs111033613)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:1851341,
FT ECO:0000269|PubMed:2104766, ECO:0000269|PubMed:2105906,
FT ECO:0000269|PubMed:2499363, ECO:0000269|PubMed:7794769,
FT ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:9326186"
FT /id="VAR_001140"
FT VARIANT 1708
FT /note="R -> H (in HEMA; mild; abolishes thrombin cleavage
FT at the light chain; dbSNP:rs111033614)"
FT /evidence="ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:1851341"
FT /id="VAR_001141"
FT VARIANT 1714
FT /note="T -> S (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12203998"
FT /id="VAR_028608"
FT VARIANT 1715
FT /note="R -> G (in HEMA; mild; dbSNP:rs137852439)"
FT /evidence="ECO:0000269|PubMed:1349567,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001142"
FT VARIANT 1720
FT /note="A -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065315"
FT VARIANT 1723
FT /note="E -> K (in HEMA; severe; dbSNP:rs137852373)"
FT /evidence="ECO:0000269|PubMed:1908817"
FT /id="VAR_001143"
FT VARIANT 1727
FT /note="D -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744,
FT ECO:0000269|PubMed:15810915"
FT /id="VAR_028609"
FT VARIANT 1728
FT /note="Y -> C (in HEMA; moderate; dbSNP:rs137852362)"
FT /evidence="ECO:0000269|PubMed:2106480"
FT /id="VAR_001144"
FT VARIANT 1740
FT /note="R -> G (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028610"
FT VARIANT 1751
FT /note="K -> Q (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028611"
FT VARIANT 1762
FT /note="F -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065316"
FT VARIANT 1768
FT /note="R -> H (in HEMA; dbSNP:rs151202877)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028612"
FT VARIANT 1769
FT /note="G -> R (in HEMA; mild; dbSNP:rs137852440)"
FT /id="VAR_001145"
FT VARIANT 1771
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028613"
FT VARIANT 1775
FT /note="L -> F (in HEMA; mild; dbSNP:rs137852441)"
FT /id="VAR_001147"
FT VARIANT 1775
FT /note="L -> V (in HEMA; moderate; dbSNP:rs28937287)"
FT /id="VAR_001146"
FT VARIANT 1777
FT /note="L -> P (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12203998"
FT /id="VAR_028614"
FT VARIANT 1779
FT /note="G -> E (in HEMA; severe/moderate; dbSNP:rs28937289)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_001148"
FT VARIANT 1779
FT /note="G -> R (in HEMA; severe; dbSNP:rs1168919288)"
FT /evidence="ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_028615"
FT VARIANT 1780
FT /note="P -> L (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028616"
FT VARIANT 1782
FT /note="I -> R (in HEMA; severe sporadic;
FT dbSNP:rs1466581271)"
FT /evidence="ECO:0000269|PubMed:11341489"
FT /id="VAR_028617"
FT VARIANT 1788
FT /note="D -> H (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028618"
FT VARIANT 1791
FT /note="M -> T (in HEMA; severe; dbSNP:rs137852375)"
FT /evidence="ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001149"
FT VARIANT 1798
FT /note="A -> P (in HEMA; severe; dbSNP:rs1263565590)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028619"
FT VARIANT 1799
FT /note="S -> H (in HEMA; requires 2 nucleotide
FT substitutions)"
FT /id="VAR_028620"
FT VARIANT 1800
FT /note="R -> C (in HEMA; moderate; dbSNP:rs137852443)"
FT /evidence="ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:1301960, ECO:0000269|PubMed:9829908"
FT /id="VAR_001151"
FT VARIANT 1800
FT /note="R -> G (in HEMA; mild; dbSNP:rs137852443)"
FT /id="VAR_001152"
FT VARIANT 1800
FT /note="R -> H (in HEMA; moderate/severe;
FT dbSNP:rs137852442)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:12871415,
FT ECO:0000269|PubMed:15682412, ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:9341862, ECO:0000269|PubMed:9450898,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001150"
FT VARIANT 1801
FT /note="P -> A (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028621"
FT VARIANT 1802
FT /note="Y -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:15682412"
FT /id="VAR_028622"
FT VARIANT 1803
FT /note="S -> Y (in HEMA; severe; dbSNP:rs137852444)"
FT /evidence="ECO:0000269|PubMed:1908096"
FT /id="VAR_001153"
FT VARIANT 1804
FT /note="F -> S (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017338"
FT VARIANT 1808
FT /note="L -> F (in HEMA; mild; dbSNP:rs137852445)"
FT /evidence="ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:7579394"
FT /id="VAR_001154"
FT VARIANT 1828
FT /note="P -> L (in HEMA; mild; unknown pathological
FT significance; decreases binding with VWF and phospholipid;
FT no effect on reaction with F9, F2 and F10; decreases
FT specific activity by 30%; patient develops inhibitor
FT alloantibodies)"
FT /evidence="ECO:0000269|PubMed:26278069"
FT /id="VAR_075624"
FT VARIANT 1842
FT /note="M -> I (in HEMA; moderate; dbSNP:rs28933674)"
FT /id="VAR_001155"
FT VARIANT 1844
FT /note="P -> S (in HEMA; mild; dbSNP:rs28933675)"
FT /id="VAR_001156"
FT VARIANT 1845
FT /note="T -> P (in HEMA; mild; dbSNP:rs28933676)"
FT /evidence="ECO:0000269|PubMed:1639429"
FT /id="VAR_001157"
FT VARIANT 1848
FT /note="E -> G (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028623"
FT VARIANT 1853
FT /note="A -> T (in HEMA; moderate/severe)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:7759074"
FT /id="VAR_001158"
FT VARIANT 1853
FT /note="A -> V (in HEMA; mild; dbSNP:rs28933677)"
FT /id="VAR_001159"
FT VARIANT 1858
FT /note="S -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028624"
FT VARIANT 1864
FT /note="K -> E (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028625"
FT VARIANT 1865
FT /note="D -> N (in HEMA; severe; dbSNP:rs28933678)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001160"
FT VARIANT 1865
FT /note="D -> Y (in HEMA; severe; dbSNP:rs28933678)"
FT /id="VAR_001161"
FT VARIANT 1867
FT /note="H -> P (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:7579394"
FT /id="VAR_028626"
FT VARIANT 1867
FT /note="H -> R (in HEMA; moderate; dbSNP:rs28933679)"
FT /id="VAR_001162"
FT VARIANT 1869
FT /note="G -> D (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028627"
FT VARIANT 1869
FT /note="G -> V (in HEMA; severe; dbSNP:rs1290383918)"
FT /evidence="ECO:0000269|PubMed:10612839,
FT ECO:0000269|PubMed:12614369"
FT /id="VAR_001163"
FT VARIANT 1872
FT /note="G -> E (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:11341489"
FT /id="VAR_028628"
FT VARIANT 1873
FT /note="P -> R (in HEMA; severe; dbSNP:rs28933680)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_001164"
FT VARIANT 1875
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028629"
FT VARIANT 1876
FT /note="V -> L (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028630"
FT VARIANT 1877
FT /note="C -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028631"
FT VARIANT 1877
FT /note="C -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:21371196"
FT /id="VAR_065317"
FT VARIANT 1882
FT /note="L -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028632"
FT VARIANT 1888
FT /note="R -> I (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:7759074"
FT /id="VAR_001165"
FT VARIANT 1894
FT /note="E -> G (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:9452104"
FT /id="VAR_001166"
FT VARIANT 1901
FT /note="I -> F (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028633"
FT VARIANT 1904
FT /note="E -> D (in HEMA; dbSNP:rs1416920499)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028634"
FT VARIANT 1904
FT /note="E -> K (in HEMA; severe; dbSNP:rs28933681)"
FT /id="VAR_001167"
FT VARIANT 1907
FT /note="S -> C (in HEMA; moderate; dbSNP:rs1160914716)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028635"
FT VARIANT 1907
FT /note="S -> R (in HEMA; severe; dbSNP:rs1364158178)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028636"
FT VARIANT 1908
FT /note="W -> L (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9341862"
FT /id="VAR_028637"
FT VARIANT 1909
FT /note="Y -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028638"
FT VARIANT 1939
FT /note="A -> T (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028639"
FT VARIANT 1939
FT /note="A -> V (in HEMA; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028640"
FT VARIANT 1941
FT /note="N -> D (in HEMA; severe/moderate;
FT dbSNP:rs137852369)"
FT /evidence="ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:2106480"
FT /id="VAR_001168"
FT VARIANT 1941
FT /note="N -> S (in HEMA; severe/moderate; dbSNP:rs28933682)"
FT /evidence="ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:1908096"
FT /id="VAR_001169"
FT VARIANT 1942
FT /note="G -> A (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015130"
FT VARIANT 1945
FT /note="M -> V (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12195713"
FT /id="VAR_028641"
FT VARIANT 1951
FT /note="L -> F (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:8759905"
FT /id="VAR_028642"
FT VARIANT 1960
FT /note="R -> L (in HEMA; moderate; dbSNP:rs28937294)"
FT /evidence="ECO:0000269|PubMed:1301194"
FT /id="VAR_001171"
FT VARIANT 1960
FT /note="R -> Q (in HEMA; mild/moderate; dbSNP:rs28937294)"
FT /evidence="ECO:0000269|PubMed:1356412,
FT ECO:0000269|PubMed:7579394, ECO:0000269|PubMed:9326186,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001170"
FT VARIANT 1963
FT /note="L -> P (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015131"
FT VARIANT 1965
FT /note="S -> I (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028643"
FT VARIANT 1966
FT /note="M -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9029040"
FT /id="VAR_028644"
FT VARIANT 1966
FT /note="M -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:15810915"
FT /id="VAR_028645"
FT VARIANT 1967
FT /note="G -> D (in HEMA; moderate; dbSNP:rs111033615)"
FT /id="VAR_001172"
FT VARIANT 1968
FT /note="S -> R (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028646"
FT VARIANT 1971
FT /note="N -> T (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028647"
FT VARIANT 1973
FT /note="H -> L (in HEMA; mild; dbSNP:rs1273080258)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:10554831"
FT /id="VAR_028648"
FT VARIANT 1979
FT /note="G -> V (in HEMA; moderate; dbSNP:rs137852450)"
FT /id="VAR_001173"
FT VARIANT 1980
FT /note="H -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028649"
FT VARIANT 1980
FT /note="H -> Y (in HEMA; mild; dbSNP:rs137852451)"
FT /id="VAR_001174"
FT VARIANT 1982
FT /note="F -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028650"
FT VARIANT 1985
FT /note="R -> Q (in HEMA; mild; dbSNP:rs1490417405)"
FT /evidence="ECO:0000269|PubMed:11442643,
FT ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:9886318"
FT /id="VAR_028651"
FT VARIANT 1994
FT /note="L -> P (in HEMA; moderate; dbSNP:rs1367630608)"
FT /evidence="ECO:0000269|PubMed:16805874"
FT /id="VAR_028652"
FT VARIANT 1998
FT /note="Y -> C (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028653"
FT VARIANT 2000
FT /note="G -> A (in HEMA; moderate-severe;
FT dbSNP:rs1343859825)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028654"
FT VARIANT 2004
FT /note="T -> R (in HEMA; sporadic)"
FT /evidence="ECO:0000269|PubMed:11442643"
FT /id="VAR_028655"
FT VARIANT 2007
FT /note="M -> I (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028656"
FT VARIANT 2013
FT /note="G -> R (in HEMA)"
FT /evidence="ECO:0000269|PubMed:21371196"
FT /id="VAR_065318"
FT VARIANT 2015
FT /note="W -> C (in HEMA; moderate; dbSNP:rs1190563629)"
FT /evidence="ECO:0000269|PubMed:11858487"
FT /id="VAR_028657"
FT VARIANT 2016
FT /note="R -> P (in HEMA; severe familial)"
FT /evidence="ECO:0000269|PubMed:11341489"
FT /id="VAR_028658"
FT VARIANT 2016
FT /note="R -> W (in HEMA; severe/moderate/mild;
FT dbSNP:rs137852453)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11442643,
FT ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:7794769,
FT ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:9886318"
FT /id="VAR_001175"
FT VARIANT 2018
FT /note="E -> G (in HEMA; moderate; dbSNP:rs1406262850)"
FT /evidence="ECO:0000269|PubMed:15810915"
FT /id="VAR_028659"
FT VARIANT 2022
FT /note="G -> D (in HEMA; severe; dbSNP:rs1320622042)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028660"
FT VARIANT 2028
FT /note="G -> R (in HEMA; dbSNP:rs1603432908)"
FT /evidence="ECO:0000269|PubMed:9569189"
FT /id="VAR_028661"
FT VARIANT 2030
FT /note="S -> N (in HEMA; mild; dbSNP:rs369414658)"
FT /evidence="ECO:0000269|PubMed:9886318"
FT /id="VAR_028662"
FT VARIANT 2035
FT /note="V -> A (in HEMA; dbSNP:rs1603432906)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028663"
FT VARIANT 2036
FT /note="Y -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:11298607"
FT /id="VAR_015132"
FT VARIANT 2038
FT /note="N -> S (in HEMA; mild/moderate; dbSNP:rs137852454)"
FT /evidence="ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:9886318"
FT /id="VAR_001176"
FT VARIANT 2040
FT /note="C -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028664"
FT VARIANT 2045
FT /note="G -> E (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028665"
FT VARIANT 2045
FT /note="G -> V (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:9569180"
FT /id="VAR_028666"
FT VARIANT 2051
FT /note="I -> S (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017339"
FT VARIANT 2056
FT /note="I -> N (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028667"
FT VARIANT 2058
FT /note="A -> P (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028668"
FT VARIANT 2065
FT /note="W -> R (in HEMA; moderate; dbSNP:rs137852455)"
FT /evidence="ECO:0000269|PubMed:1301932"
FT /id="VAR_001177"
FT VARIANT 2067
FT /note="P -> L (in HEMA; severe sporadic;
FT dbSNP:rs1348849974)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:15810915"
FT /id="VAR_028669"
FT VARIANT 2070
FT /note="A -> V (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028670"
FT VARIANT 2082
FT /note="S -> N (in HEMA; severe; dbSNP:rs1569559494)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028671"
FT VARIANT 2088
FT /note="S -> F (in HEMA; severe; dbSNP:rs137852456)"
FT /id="VAR_001178"
FT VARIANT 2093
FT /note="D -> G (in HEMA; mild; dbSNP:rs137852457)"
FT /id="VAR_001179"
FT VARIANT 2093
FT /note="D -> Y (in HEMA; severe familial)"
FT /evidence="ECO:0000269|PubMed:11442643"
FT /id="VAR_028672"
FT VARIANT 2101
FT /note="H -> D (in HEMA; dbSNP:rs1603432783)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065319"
FT VARIANT 2105
FT /note="T -> N (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:9603440"
FT /id="VAR_001180"
FT VARIANT 2106
FT /note="Q -> E (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028673"
FT VARIANT 2106
FT /note="Q -> P (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065320"
FT VARIANT 2106
FT /note="Q -> R (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9341862"
FT /id="VAR_028674"
FT VARIANT 2107
FT /note="G -> S (in HEMA; severe; dbSNP:rs1267586059)"
FT /evidence="ECO:0000269|PubMed:9452104"
FT /id="VAR_001181"
FT VARIANT 2109
FT /note="R -> C (in HEMA; mild; dbSNP:rs1475665992)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028675"
FT VARIANT 2117
FT /note="I -> F (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028676"
FT VARIANT 2117
FT /note="I -> S (in HEMA; mild-moderate; affinity for VWF
FT reduced 8-fold)"
FT /evidence="ECO:0000269|PubMed:10910910"
FT /id="VAR_028677"
FT VARIANT 2119
FT /note="Q -> R (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:7794769"
FT /id="VAR_028678"
FT VARIANT 2120
FT /note="F -> C (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028679"
FT VARIANT 2120
FT /note="F -> L (in HEMA; mild; dbSNP:rs137852458)"
FT /id="VAR_001182"
FT VARIANT 2124
FT /note="Y -> C (in HEMA; mild; dbSNP:rs137852459)"
FT /evidence="ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:9569189"
FT /id="VAR_001183"
FT VARIANT 2135
FT /note="R -> P (in HEMA; severe; dbSNP:rs137852366)"
FT /evidence="ECO:0000269|PubMed:3122181"
FT /id="VAR_001184"
FT VARIANT 2138
FT /note="S -> Y (in HEMA; moderate; affinity for VWF reduced
FT 80-fold; dbSNP:rs137852460)"
FT /evidence="ECO:0000269|PubMed:10910910"
FT /id="VAR_001185"
FT VARIANT 2141
FT /note="T -> N (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017340"
FT VARIANT 2143
FT /note="M -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065321"
FT VARIANT 2145
FT /note="F -> C (in HEMA; mild; dbSNP:rs1603431562)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11857744"
FT /id="VAR_028680"
FT VARIANT 2148
FT /note="N -> S (in HEMA; moderate; dbSNP:rs1321311878)"
FT /evidence="ECO:0000269|PubMed:10910910"
FT /id="VAR_001186"
FT VARIANT 2157
FT /note="N -> D (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028681"
FT VARIANT 2162
FT /note="P -> L (in HEMA; severe; dbSNP:rs1450770782)"
FT /evidence="ECO:0000269|PubMed:15810915"
FT /id="VAR_028682"
FT VARIANT 2169
FT /note="R -> C (in HEMA; mild; dbSNP:rs782641941)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:12871415"
FT /id="VAR_028683"
FT VARIANT 2169
FT /note="R -> H (in HEMA; severe/mild; affinity for VWF
FT reduced 3-fold; dbSNP:rs137852461)"
FT /evidence="ECO:0000269|PubMed:10338101,
FT ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:10896236,
FT ECO:0000269|PubMed:10910910, ECO:0000269|PubMed:11341489,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11858487,
FT ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:1908096, ECO:0000269|PubMed:7579394,
FT ECO:0000269|PubMed:8639447, ECO:0000269|PubMed:9326186,
FT ECO:0000269|PubMed:9569189, ECO:0000269|PubMed:9829908"
FT /id="VAR_001187"
FT VARIANT 2172
FT /note="P -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065322"
FT VARIANT 2172
FT /note="P -> Q (in HEMA; moderate; dbSNP:rs137852462)"
FT /evidence="ECO:0000269|PubMed:10910910"
FT /id="VAR_001188"
FT VARIANT 2172
FT /note="P -> R (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:11410838"
FT /id="VAR_015133"
FT VARIANT 2173
FT /note="T -> A (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11857744"
FT /id="VAR_028684"
FT VARIANT 2173
FT /note="T -> I (in HEMA; mild; dbSNP:rs137852463)"
FT /evidence="ECO:0000269|PubMed:1301960"
FT /id="VAR_001189"
FT VARIANT 2174
FT /note="H -> D (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028685"
FT VARIANT 2178
FT /note="R -> C (in HEMA; mild/moderate; dbSNP:rs137852464)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:12195713,
FT ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:1301932,
FT ECO:0000269|PubMed:7579394, ECO:0000269|PubMed:8449505,
FT ECO:0000269|PubMed:9326186"
FT /id="VAR_001190"
FT VARIANT 2178
FT /note="R -> H (in HEMA; mild; dbSNP:rs137852465)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_001191"
FT VARIANT 2178
FT /note="R -> L (in HEMA; mild; dbSNP:rs137852465)"
FT /id="VAR_001192"
FT VARIANT 2182
FT /note="R -> C (in HEMA; severe/moderate;
FT dbSNP:rs137852467)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:12325022,
FT ECO:0000269|PubMed:12871415"
FT /id="VAR_001193"
FT VARIANT 2182
FT /note="R -> H (in HEMA; severe/moderate;
FT dbSNP:rs137852466)"
FT /evidence="ECO:0000269|PubMed:10215414,
FT ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11341489,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11554935,
FT ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:9569189,
FT ECO:0000269|PubMed:9829908"
FT /id="VAR_001194"
FT VARIANT 2182
FT /note="R -> P (in HEMA; moderate/severe)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028686"
FT VARIANT 2183
FT /note="M -> R (in HEMA; moderate; dbSNP:rs1405473814)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028687"
FT VARIANT 2183
FT /note="M -> V (in HEMA; mild; dbSNP:rs781797728)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_001195"
FT VARIANT 2185
FT /note="L -> S (in HEMA; severe; dbSNP:rs137852365)"
FT /evidence="ECO:0000269|PubMed:11410838"
FT /id="VAR_001196"
FT VARIANT 2185
FT /note="L -> W (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028688"
FT VARIANT 2192
FT /note="S -> I (in HEMA; mild; dbSNP:rs782098979)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:11858487"
FT /id="VAR_028689"
FT VARIANT 2193
FT /note="C -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12199686"
FT /id="VAR_017341"
FT VARIANT 2196
FT /note="P -> R (in HEMA)"
FT /id="VAR_028690"
FT VARIANT 2198
FT /note="G -> V (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:11442643"
FT /id="VAR_028691"
FT VARIANT 2200
FT /note="E -> D (in HEMA)"
FT /evidence="ECO:0000269|PubMed:9569189"
FT /id="VAR_028692"
FT VARIANT 2204
FT /note="I -> T (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:9452104"
FT /id="VAR_001197"
FT VARIANT 2209
FT /note="I -> N (in HEMA; moderate)"
FT /id="VAR_001198"
FT VARIANT 2211
FT /note="A -> P (in HEMA; moderate; dbSNP:rs137852468)"
FT /id="VAR_001199"
FT VARIANT 2220
FT /note="A -> P (in HEMA; mild; dbSNP:rs782548763)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028693"
FT VARIANT 2223
FT /note="Missing (in HEMA; severe/moderate)"
FT /id="VAR_001200"
FT VARIANT 2224
FT /note="P -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028695"
FT VARIANT 2224
FT /note="Missing (in HEMA; moderate; dbSNP:rs1229477261)"
FT /evidence="ECO:0000269|PubMed:1639429"
FT /id="VAR_028694"
FT VARIANT 2228
FT /note="R -> G (in HEMA; severe; dbSNP:rs137852355)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_001201"
FT VARIANT 2228
FT /note="R -> L (in HEMA; moderate; dbSNP:rs137852358)"
FT /id="VAR_001202"
FT VARIANT 2228
FT /note="R -> P (in HEMA; moderate-severe)"
FT /evidence="ECO:0000269|PubMed:10896236"
FT /id="VAR_028696"
FT VARIANT 2228
FT /note="R -> Q (in HEMA; severe/moderate;
FT dbSNP:rs137852358)"
FT /evidence="ECO:0000269|PubMed:10338101,
FT ECO:0000269|PubMed:10800171, ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:1908096,
FT ECO:0000269|PubMed:2105106, ECO:0000269|PubMed:2833855,
FT ECO:0000269|PubMed:8644728"
FT /id="VAR_001203"
FT VARIANT 2229
FT /note="L -> F (in HEMA; dbSNP:rs1603431508)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028697"
FT VARIANT 2242
FT /note="V -> M (in dbSNP:rs782654096)"
FT /evidence="ECO:0000269|PubMed:8639447"
FT /id="VAR_001204"
FT VARIANT 2248
FT /note="W -> C (in HEMA; moderate; dbSNP:rs137852469)"
FT /evidence="ECO:0000269|PubMed:10404764,
FT ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:9569189"
FT /id="VAR_001205"
FT VARIANT 2248
FT /note="W -> S (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12614369"
FT /id="VAR_028698"
FT VARIANT 2251
FT /note="V -> A (in HEMA; mild; dbSNP:rs782479558)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:15682412"
FT /id="VAR_028699"
FT VARIANT 2251
FT /note="V -> E (in HEMA; dbSNP:rs782479558)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028700"
FT VARIANT 2257
FT /note="M -> V (in dbSNP:rs1800297)"
FT /evidence="ECO:0000269|PubMed:7579394,
FT ECO:0000269|PubMed:9569180, ECO:0000269|Ref.6"
FT /id="VAR_021356"
FT VARIANT 2262
FT /note="V -> VQ (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:12930394"
FT /id="VAR_017342"
FT VARIANT 2264
FT /note="T -> A (in HEMA)"
FT /evidence="ECO:0000269|PubMed:9326186"
FT /id="VAR_028701"
FT VARIANT 2265
FT /note="Q -> R (in HEMA; moderate; dbSNP:rs137852470)"
FT /id="VAR_001206"
FT VARIANT 2279
FT /note="F -> C (in HEMA; severe sporadic)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:9569180"
FT /id="VAR_028702"
FT VARIANT 2279
FT /note="F -> I (in HEMA; dbSNP:rs782717799)"
FT /evidence="ECO:0000269|PubMed:9569189"
FT /id="VAR_028703"
FT VARIANT 2281
FT /note="I -> T (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:7579394"
FT /id="VAR_028704"
FT VARIANT 2286
FT /note="D -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065323"
FT VARIANT 2290
FT /note="W -> L (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028705"
FT VARIANT 2304
FT /note="G -> V (in HEMA)"
FT /evidence="ECO:0000269|PubMed:9326186"
FT /id="VAR_028706"
FT VARIANT 2307
FT /note="D -> A (in HEMA; moderate/mild; dbSNP:rs1603430929)"
FT /evidence="ECO:0000269|PubMed:11298607,
FT ECO:0000269|PubMed:11554935"
FT /id="VAR_015134"
FT VARIANT 2319
FT /note="P -> L (in HEMA; mild/severe; dbSNP:rs137852472)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:12871415"
FT /id="VAR_001207"
FT VARIANT 2319
FT /note="P -> S (in HEMA; mild; dbSNP:rs137852374)"
FT /evidence="ECO:0000269|PubMed:1908817,
FT ECO:0000269|PubMed:9829908"
FT /id="VAR_001208"
FT VARIANT 2323
FT /note="R -> C (in HEMA; severe/moderate; may cause reduced
FT phospholipid binding; dbSNP:rs137852473)"
FT /evidence="ECO:0000269|PubMed:10910913,
FT ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:12871415,
FT ECO:0000269|PubMed:1908096"
FT /id="VAR_001209"
FT VARIANT 2323
FT /note="R -> G (in HEMA; moderate; dbSNP:rs137852473)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028707"
FT VARIANT 2323
FT /note="R -> H (in HEMA; mild; may cause reduced
FT phospholipid binding; dbSNP:rs137852474)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_001210"
FT VARIANT 2323
FT /note="R -> L (in HEMA; mild)"
FT /evidence="ECO:0000269|PubMed:11554935"
FT /id="VAR_028708"
FT VARIANT 2326
FT /note="R -> G (in HEMA)"
FT /evidence="ECO:0000269|PubMed:10404764"
FT /id="VAR_028709"
FT VARIANT 2326
FT /note="R -> L (in HEMA; severe/moderate; may cause reduced
FT phospholipid binding; dbSNP:rs137852360)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:2105106,
FT ECO:0000269|PubMed:2495245, ECO:0000269|PubMed:8644728"
FT /id="VAR_001211"
FT VARIANT 2326
FT /note="R -> P (in HEMA; severe sporadic;
FT dbSNP:rs137852360)"
FT /evidence="ECO:0000269|PubMed:11410838,
FT ECO:0000269|PubMed:11748850"
FT /id="VAR_028710"
FT VARIANT 2326
FT /note="R -> Q (in HEMA; moderate/mild; may cause reduced
FT phospholipid binding; dbSNP:rs137852360)"
FT /evidence="ECO:0000269|PubMed:10338101,
FT ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:12195713,
FT ECO:0000269|PubMed:3012775"
FT /id="VAR_001212"
FT VARIANT 2330
FT /note="Q -> P (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:11857744,
FT ECO:0000269|PubMed:12203998"
FT /id="VAR_028711"
FT VARIANT 2332
FT /note="W -> R (in HEMA; severe)"
FT /evidence="ECO:0000269|PubMed:10800171"
FT /id="VAR_028712"
FT VARIANT 2336
FT /note="I -> F (in HEMA)"
FT /evidence="ECO:0000269|PubMed:18184865"
FT /id="VAR_065324"
FT VARIANT 2339
FT /note="R -> T (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10910913"
FT /id="VAR_028713"
FT VARIANT 2344
FT /note="G -> C (in HEMA; moderate)"
FT /evidence="ECO:0000269|PubMed:10612839,
FT ECO:0000269|PubMed:12614369"
FT /id="VAR_008968"
FT VARIANT 2344
FT /note="G -> D (in HEMA; dbSNP:rs1557271042)"
FT /evidence="ECO:0000269|PubMed:21371196"
FT /id="VAR_065325"
FT VARIANT 2344
FT /note="G -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:8644728"
FT /id="VAR_028714"
FT VARIANT 2345
FT /note="C -> S (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12871415"
FT /id="VAR_028715"
FT VARIANT 2345
FT /note="C -> Y (in HEMA)"
FT /evidence="ECO:0000269|PubMed:12325022"
FT /id="VAR_028716"
FT CONFLICT 768
FT /note="P -> R (in Ref. 2; CAA25619)"
FT /evidence="ECO:0000305"
FT CONFLICT 1922
FT /note="C -> S (in Ref. 5; AAA52420)"
FT /evidence="ECO:0000305"
FT STRAND 21..33
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 65..75
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 95..98
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 102..108
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 111..113
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 118..124
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 139..141
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 143..145
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 152..158
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 167..169
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 171..178
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 183..189
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 192..198
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 213..222
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 223..225
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 249..253
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 268..279
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 286..290
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 295..297
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 300..307
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 309..318
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 323..329
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 332..334
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 335..338
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 340..345
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 400..415
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 426..430
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 440..452
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 456..458
FT /evidence="ECO:0007829|PDB:6MF0"
FT TURN 463..467
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 472..475
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 479..486
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 488..490
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 495..498
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 501..504
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 511..513
FT /evidence="ECO:0007829|PDB:6MF0"
FT TURN 517..519
FT /evidence="ECO:0007829|PDB:6MF0"
FT STRAND 527..533
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 536..538
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 542..544
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 546..553
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 558..564
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 567..573
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 591..599
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 600..602
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 606..613
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 625..629
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 632..636
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 645..649
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 653..660
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 668..672
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 677..679
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 682..685
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 687..689
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 693..700
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 705..712
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 714..718
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 723..728
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1696..1698
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1714..1726
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1749..1759
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 1770..1772
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1773..1775
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1782..1785
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1789..1796
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1798..1800
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1831..1837
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1840..1842
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1846..1848
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1850..1857
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1864..1868
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1872..1877
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 1884..1886
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1892..1903
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1904..1906
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1910..1917
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 1932..1935
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1936..1940
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1952..1954
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1959..1965
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1973..1977
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 1982..1997
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2002..2007
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2013..2019
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 2022..2026
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2030..2036
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 2046..2048
FT /evidence="ECO:0007829|PDB:7KWO"
FT HELIX 2053..2055
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2056..2059
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 2062..2064
FT /evidence="ECO:0007829|PDB:6MF0"
FT HELIX 2067..2069
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2076..2078
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2080..2083
FT /evidence="ECO:0007829|PDB:6MF0"
FT STRAND 2084..2087
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2090..2106
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2117..2129
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2139..2142
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2149..2152
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2155..2178
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2181..2188
FT /evidence="ECO:0007829|PDB:7KWO"
FT TURN 2199..2201
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2202..2204
FT /evidence="ECO:0007829|PDB:3HNY"
FT HELIX 2206..2208
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2209..2212
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2215..2217
FT /evidence="ECO:0007829|PDB:1D7P"
FT STRAND 2220..2222
FT /evidence="ECO:0007829|PDB:1D7P"
FT HELIX 2224..2226
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2233..2235
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2249..2265
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2267..2269
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2272..2289
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2290..2292
FT /evidence="ECO:0007829|PDB:7KWO"
FT STRAND 2296..2298
FT /evidence="ECO:0007829|PDB:6MF0"
FT STRAND 2306..2310
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2312..2335
FT /evidence="ECO:0007829|PDB:3HNY"
FT STRAND 2338..2346
FT /evidence="ECO:0007829|PDB:3HNY"
SQ 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
