UniProtKB - P00451 (FA8_HUMAN)
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- BLAST
>sp|P00451|FA8_HUMAN Coagulation factor VIII OS=Homo sapiens OX=9606 GN=F8 PE=1 SV=1 MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM EVLGCEAQDLY
- Align
Protein
Coagulation factor VIII
Gene
F8
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- copper ion binding Source: InterPro
- oxidoreductase activity Source: InterPro
GO - Biological processi
- acute-phase response Source: UniProtKB-KW
- blood coagulation Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- blood coagulation, intrinsic pathway Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestori
- COPII vesicle coating Source: Reactome
- ER to Golgi vesicle-mediated transport Source: Reactome
- platelet activation Source: InterPro
- platelet degranulation Source: Reactome
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Biological process | Acute phase, Blood coagulation, Hemostasis |
| Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-114608 Platelet degranulation R-HSA-140837 Intrinsic Pathway of Fibrin Clot Formation R-HSA-140875 Common Pathway of Fibrin Clot Formation R-HSA-204005 COPII-mediated vesicle transport R-HSA-5694530 Cargo concentration in the ER |
SABIO-RK: Biochemical Reaction Kinetics Database More...SABIO-RKi | P00451 |
SIGNOR Signaling Network Open Resource More...SIGNORi | P00451 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Coagulation factor VIIIAlternative name(s): Antihemophilic factor Short name: AHF Procoagulant component Cleaved into the following 4 chains: |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:F8 Synonyms:F8C |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000185010.13 |
Human Gene Nomenclature Database More...HGNCi | HGNC:3546 F8 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 300841 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P00451 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Extracellular region or secreted
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular region Source: Reactome
- extracellular space Source: GO_CentralInferred from biological aspect of ancestori
Golgi apparatus
- Golgi membrane Source: GOC
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- COPII-coated ER to Golgi transport vesicle Source: Reactome
- endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
- platelet alpha granule lumen Source: Reactome
Keywords - Cellular componenti
Secreted<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Hemophilia A (HEMA)80 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.22"Identification of a missense mutation in the factor VIII gene of a mild hemophiliac."
Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.
Science 232:1415-1416(1986) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA GLN-2326. - Ref.23"A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences."
Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.
Nucleic Acids Res. 15:9797-9805(1987) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA PRO-2135. - Ref.24"Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides."
Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.
Am. J. Hum. Genet. 42:718-725(1988) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA GLN-2228. - Ref.25"Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene."
Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.
Am. J. Hum. Genet. 42:867-871(1988) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA GLY-291. - Ref.26"Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A."
O'Brien D.P., Tuddenham E.G.
Blood 73:2117-2122(1989) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA CYS-1708. - Ref.27"An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule."
Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.
Blood 74:1612-1617(1989) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA CYS-391. - Ref.29"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene."
Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.
Hum. Genet. 81:335-338(1989) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA LEU-2326. - Ref.30"Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine)."
Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA HIS-391. - Ref.31"Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A."
Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.
Blood 75:384-389(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA CYS-1708. - Ref.32"Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent."
Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.
Blood 75:662-670(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLN-2228 AND LEU-2326. - Ref.33"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site."
Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.
Br. J. Haematol. 75:73-77(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA CYS-391. - Ref.34"Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA."
Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 6:65-71(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PHE-1699 AND CYS-1708. - Ref.35"Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene."
Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.
Genomics 6:293-301(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-1728 AND ASP-1941. - Ref.36"Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis."
Kogan S., Gitschier J.
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LEU-345 AND ARG-348. - Ref.37"Identification of mutations in two families with sporadic hemophilia A."
Paynton C., Sarkar G., Sommer S.S.
Hum. Genet. 87:397-400(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LYS-1723 AND SER-2319. - Ref.38"Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene."
Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323. - Ref.40"Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain."
Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.
Thromb. Res. 61:225-234(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-1708 AND HIS-1708. - Ref.41"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin."
Krepelova A., Vorlova Z., Acquila M., Mori P.
Br. J. Haematol. 81:458-458(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LYS-291 AND GLN-1960. - Ref.42"Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)."
Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 13:909-911(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PRO-1845 AND PRO-2224 DEL. - Ref.43"Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection."
Reiner A.P., Thompson A.R.
Hum. Genet. 89:88-94(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA GLY-1715. - Ref.44"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A."
Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.
Hum. Mutat. 1:77-78(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA LEU-1960. - Ref.45"Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A."
Diamond C., Kogan S., Levinson B., Gitschier J.
Hum. Mutat. 1:248-257(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550; GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178 AND CYS-2248. - Ref.46"Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis."
Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.
Hum. Mutat. 1:506-508(1992) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-1800 AND ILE-2173. - Ref.47"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A."
McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.
Genomics 15:392-398(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178. - Ref.48"Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene."
Pieneman W.C., Reitsma P.H., Briet E.
Thromb. Haemost. 69:473-475(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ILE-299 AND ASN-450. - Ref.49"Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients."
Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.
Blood 86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281, VARIANT VAL-2257. - Ref.50"Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients."
Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.
Br. J. Haematol. 90:442-449(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705; CYS-1708; TRP-2016 AND ARG-2119. - Ref.51"Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype."
Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.
Hum. Genet. 95:531-538(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888. - Ref.52"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies."
Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.
Am. J. Hum. Genet. 58:657-670(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344. - Ref.53"Molecular characterization of haemophilia A in southern Chinese."
Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.
Br. J. Haematol. 93:451-456(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169, VARIANT MET-2242. - Ref.54"Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods."
Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.
Br. J. Haematol. 94:400-406(1996) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951. - Ref.55"Mutations in the FVIII gene in seven families with mild haemophilia A."
Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.
Br. J. Haematol. 96:426-427(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966. - Ref.56"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism."
Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.
Br. J. Haematol. 98:901-906(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304. - Ref.57"Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations."
Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Genet. 100:508-511(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106. - Ref.58"A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins."
Liu M., Murphy M.E.P., Thompson A.R.
Br. J. Haematol. 103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038. - Ref.59"Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts."
Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C., Demaille J., Claustres M.
Hum. Mutat. 11:18-22(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800. - Ref.60"Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes."
Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H.
Hum. Mutat. 11:334-334(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA HIS-2182. - Ref.61"Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene."
Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J., Cassiman J.-J., Matthijs G.
Hum. Mutat. 11:470-479(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105. - Ref.62"Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)."
Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.
Hum. Mutat. Suppl. 1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204. - Ref.63"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping."
Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.
Hum. Mutat. 12:301-303(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA. - Ref.64"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene."
Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.
Hum. Mutat. 12:393-402(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319. - Ref.65"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis."
Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G., Wright J., Peake I.R., Goodeve A.C.
Thromb. Haemost. 79:723-726(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, VARIANT VAL-2257. - Ref.66"Factor VIII inhibitors in mild and moderate-severity haemophilia A."
UK haemophilia centre directors organisation
Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.
Thromb. Haemost. 79:762-766(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279. - Ref.67"Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain."
Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.
Br. J. Haematol. 105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA LEU-1973. - Ref.68"Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum."
Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.
Hum. Mutat. 13:413-413(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326. - Ref.69"Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation."
Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Mutat. 13:504-504(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-202 AND HIS-301. - Ref.70"Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch."
The haemophilia centres
Waseem N.H., Bagnall R., Green P.M., Giannelli F.
Thromb. Haemost. 81:900-905(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326. - Ref.71"A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor."
Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.
Blood 96:958-965(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169. - Ref.72"Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure."
Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.
Blood 96:979-987(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339. - Ref.73"Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A."
Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.
Br. J. Haematol. 108:241-246(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-612 AND SER-637, CHARACTERIZATION OF VARIANTS HEMA CYS-612 AND SER-637. - Ref.74"Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family."
Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.
Br. J. Haematol. 109:523-528(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA ILE-713. - Ref.75"Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis."
Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.
Haematologica 85:525-529(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332. - Ref.76"Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)."
Recombinate PUP study group
Goodeve A.C., Williams I., Bray G.L., Peake I.R.
Thromb. Haemost. 83:844-848(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000; HIS-2169 AND PRO-2228. - Ref.77"Mutations of the factor VIII gene in Thai hemophilia A patients."
Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.
Hum. Mutat. 15:117-118(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344. - Ref.78"Somatic mosaicism in hemophilia A: a fairly common event."
Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.
Am. J. Hum. Genet. 69:75-87(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498; ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182; SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326. - Ref.79"Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data."
Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.
Br. J. Haematol. 112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307. - Ref.80"Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A."
Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.
Haemophilia 7:381-391(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228. - Ref.81"Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation."
Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.
Haemophilia 7:419-421(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA ALA-92. - Ref.82"Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations."
Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K., Caglayan S.H.
Haemophilia 7:475-481(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323. - Ref.83"Seven novel and four recurrent point mutations in the factor VIII (F8C) gene."
Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A., Horst J.
Hum. Mutat. 18:546-546(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326. - Ref.84"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations."
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.
Thromb. Haemost. 85:580-583(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182. - Ref.85"Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A."
Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M., Negrier C.
Blood 100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA CYS-35. - Ref.86"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.
Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA GLY-198. - Ref.87"Three novel point mutations causing haemophilia A."
Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S., Efremov G.D.
Haemophilia 8:715-718(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PRO-97 AND GLY-2193. - Ref.88"The identification and classification of 41 novel mutations in the factor VIII gene (F8C)."
Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.
Hum. Mutat. 19:274-278(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330. - Ref.89"Identification of seven novel mutations of F8C by DHPLC."
Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G., Morfini M., Torricelli F.
Hum. Mutat. 20:231-232(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330. - Ref.90"High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation."
Citron M., Godmilow L., Ganguly T., Ganguly A.
Hum. Mutat. 20:267-274(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439; CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875; ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251; LEU-2290; CYS-2323 AND TYR-2345. - Ref.91"Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses."
Liu M.-L., Nakaya S., Thompson A.R.
Thromb. Haemost. 87:273-276(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326. - Ref.92"11 hemophilia A patients without mutations in the factor VIII encoding gene."
Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.
Thromb. Haemost. 88:357-360(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326, VARIANT GLU-1260. - Ref.93"Analysis of 18 novel mutations in the factor VIII gene."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.
Br. J. Haematol. 122:810-817(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS. - Ref.94"Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions."
Habart D., Kalabova D., Novotny M., Vorlova Z.
J. Thromb. Haemost. 1:773-781(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345. - Ref.95"Genotype and phenotype of haemophilia A in Thai patients."
Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.
Haemophilia 9:179-186(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344. - Ref.96"Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.
Am. J. Hematol. 78:117-122(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251. - Ref.97"Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype."
Hill M., Deam S., Gordon B., Dolan G.
Haemophilia 11:133-141(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067; LEU-2162 AND HIS-2182. - Ref.98"Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII."
Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.
J. Thromb. Haemost. 4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA PRO-1994. - Ref.99"Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites."
Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.
Blood 111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA ARG-83; ASN-186; PRO-195; PRO-261; ASP-280; SER-394; VAL-474; ARG-496; VAL-513; ARG-569; ILE-637; VAL-1720; LEU-1762; ASP-2101; PRO-2106; VAL-2143; LEU-2172; GLY-2286 AND PHE-2336. - Ref.100"Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations."
Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.
Haemophilia 17:913-918(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344. - Ref.101"Factor VIII Antigen, Activity, and Mutations in Hemophilia A."
Nair P.S., Shetty S., Ghosh K.
Clin. Appl. Thromb. Hemost. 22:381-385(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HEMA SER-439 AND THR-723. - Ref.102"Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity."
Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.
J. Thromb. Haemost. 13:1843-1853(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HEMA LEU-1828, CHARACTERIZATION OF VARIANT HEMA LEU-1828.
Ref.22
"Identification of a missense mutation in the factor VIII gene of a mild hemophiliac."
Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.
Science 232:1415-1416(1986) [PubMed] [Europe PMC] [Abstract]
Gitschier J., Wood W.I., Shuman M.A., Lawn R.M.
Science 232:1415-1416(1986) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLN-2326.
Ref.23
"A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences."
Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.
Nucleic Acids Res. 15:9797-9805(1987) [PubMed] [Europe PMC] [Abstract]
Levinson B., Janco R.L., Phillips J.A. III, Gitschier J.
Nucleic Acids Res. 15:9797-9805(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA PRO-2135.
Ref.24
"Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides."
Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.
Am. J. Hum. Genet. 42:718-725(1988) [PubMed] [Europe PMC] [Abstract]
Youssoufian H., Antonarakis S.E., Bell W., Griffin A.M., Kazazian H.H. Jr.
Am. J. Hum. Genet. 42:718-725(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLN-2228.
Ref.25
"Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene."
Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.
Am. J. Hum. Genet. 42:867-871(1988) [PubMed] [Europe PMC] [Abstract]
Youssoufian H., Wong C., Aronis S., Platokoukis H., Kazazian H.H. Jr., Antonarakis S.E.
Am. J. Hum. Genet. 42:867-871(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-291.
Ref.26
"Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A."
O'Brien D.P., Tuddenham E.G.
Blood 73:2117-2122(1989) [PubMed] [Europe PMC] [Abstract]
O'Brien D.P., Tuddenham E.G.
Blood 73:2117-2122(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-1708.
Ref.27
"An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule."
Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.
Blood 74:1612-1617(1989) [PubMed] [Europe PMC] [Abstract]
Shima M., Ware J., Yoshioka A., Fukui H., Fulcher C.A.
Blood 74:1612-1617(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-391.
Ref.29
"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene."
Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.
Hum. Genet. 81:335-338(1989) [PubMed] [Europe PMC] [Abstract]
Inaba H., Fujimaki M., Kazazian H.H. Jr., Antonarakis S.E.
Hum. Genet. 81:335-338(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-2326.
Ref.30
"Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine)."
Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989) [PubMed] [Europe PMC] [Abstract]
Arai M., Inaba H., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Fujimaki M., Hoyer L.W.
Proc. Natl. Acad. Sci. U.S.A. 86:4277-4281(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA HIS-391.
Ref.31
"Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A."
Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.
Blood 75:384-389(1990) [PubMed] [Europe PMC] [Abstract]
Arai M., Higuchi M., Antonarakis S.E., Kazazian H.H. Jr., Phillips J.A. III, Janco R.L., Hoyer L.W.
Blood 75:384-389(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-1708.
Ref.32
"Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent."
Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.
Blood 75:662-670(1990) [PubMed] [Europe PMC] [Abstract]
Casula L., Murru S., Pecorara M., Ristaldi M.S., Restagno G., Mancuso G., Morfini M., de Biasi R., Baudo F., Carbonara A.
Blood 75:662-670(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLN-2228 AND LEU-2326.
Ref.33
"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site."
Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.
Br. J. Haematol. 75:73-77(1990) [PubMed] [Europe PMC] [Abstract]
Pattinson J.K., McVey J.H., Boon M., Ajani A., Tuddenham E.G.
Br. J. Haematol. 75:73-77(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-391.
Ref.34
"Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA."
Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 6:65-71(1990) [PubMed] [Europe PMC] [Abstract]
Higuchi M., Wong C., Kochhan L., Olek K., Aronis S., Kasper C.K., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 6:65-71(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PHE-1699 AND CYS-1708.
Ref.35
"Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene."
Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.
Genomics 6:293-301(1990) [PubMed] [Europe PMC] [Abstract]
Traystman M.D., Higuchi M., Kasper C.K., Antonarakis S.E., Kazazian H.H. Jr.
Genomics 6:293-301(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1728 AND ASP-1941.
Ref.36
"Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis."
Kogan S., Gitschier J.
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]
Kogan S., Gitschier J.
Proc. Natl. Acad. Sci. U.S.A. 87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-345 AND ARG-348.
Ref.37
"Identification of mutations in two families with sporadic hemophilia A."
Paynton C., Sarkar G., Sommer S.S.
Hum. Genet. 87:397-400(1991) [PubMed] [Europe PMC] [Abstract]
Paynton C., Sarkar G., Sommer S.S.
Hum. Genet. 87:397-400(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-1723 AND SER-2319.
Ref.38
"Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene."
Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]
Higuchi M., Kazazian H.H. Jr., Kasch L., Warren T.C., McGinniss M.J., Phillips J.A. III, Kasper C., Janco R., Antonarakis S.E.
Proc. Natl. Acad. Sci. U.S.A. 88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323.
Ref.40
"Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain."
Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.
Thromb. Res. 61:225-234(1991) [PubMed] [Europe PMC] [Abstract]
Schwaab R., Ludwig M., Kochhan L., Oldenburg J., McVey J.H., Egli H., Brackmann H.H., Olek K.
Thromb. Res. 61:225-234(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1708 AND HIS-1708.
Ref.41
"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin."
Krepelova A., Vorlova Z., Acquila M., Mori P.
Br. J. Haematol. 81:458-458(1992) [PubMed] [Europe PMC] [Abstract]
Krepelova A., Vorlova Z., Acquila M., Mori P.
Br. J. Haematol. 81:458-458(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-291 AND GLN-1960.
Ref.42
"Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)."
Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 13:909-911(1992) [PubMed] [Europe PMC] [Abstract]
Economou E.P., Kazazian H.H. Jr., Antonarakis S.E.
Genomics 13:909-911(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-1845 AND PRO-2224 DEL.
Ref.43
"Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection."
Reiner A.P., Thompson A.R.
Hum. Genet. 89:88-94(1992) [PubMed] [Europe PMC] [Abstract]
Reiner A.P., Thompson A.R.
Hum. Genet. 89:88-94(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-1715.
Ref.44
"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A."
Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.
Hum. Mutat. 1:77-78(1992) [PubMed] [Europe PMC] [Abstract]
Nafa K., Baudis M., Deburgrave N., Bardin J.M., Sultan Y., Kaplan J.C., Delpech M.
Hum. Mutat. 1:77-78(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-1960.
Ref.45
"Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A."
Diamond C., Kogan S., Levinson B., Gitschier J.
Hum. Mutat. 1:248-257(1992) [PubMed] [Europe PMC] [Abstract]
Diamond C., Kogan S., Levinson B., Gitschier J.
Hum. Mutat. 1:248-257(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550; GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178 AND CYS-2248.
Ref.46
"Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis."
Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.
Hum. Mutat. 1:506-508(1992) [PubMed] [Europe PMC] [Abstract]
Jonsdottir S., Diamond C., Levinson B., Magnusson S., Jensson O., Gitschier J.
Hum. Mutat. 1:506-508(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-1800 AND ILE-2173.
Ref.47
"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A."
McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.
Genomics 15:392-398(1993) [PubMed] [Europe PMC] [Abstract]
McGinniss M.J., Kazazian H.H. Jr., Hoyer L.W., Bi L., Inaba H., Antonarakis S.E.
Genomics 15:392-398(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178.
Ref.48
"Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene."
Pieneman W.C., Reitsma P.H., Briet E.
Thromb. Haemost. 69:473-475(1993) [PubMed] [Europe PMC] [Abstract]
Pieneman W.C., Reitsma P.H., Briet E.
Thromb. Haemost. 69:473-475(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ILE-299 AND ASN-450.
Ref.49
"Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients."
Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.
Blood 86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]
Arruda V.R., Pieneman W.C., Reitsma P.H., Deutz-Terlouw P.P., Annichino-Bizzacchi J.M., Brieet E., Costa F.F.
Blood 86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281, VARIANT VAL-2257.
Ref.50
"Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients."
Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.
Br. J. Haematol. 90:442-449(1995) [PubMed] [Europe PMC] [Abstract]
Pieneman W.C., Deutz-Terlouw P.P., Reitsma P.H., Brieet E.
Br. J. Haematol. 90:442-449(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705; CYS-1708; TRP-2016 AND ARG-2119.
Ref.51
"Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype."
Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.
Hum. Genet. 95:531-538(1995) [PubMed] [Europe PMC] [Abstract]
Bidichandani S.I., Lanyon W.G., Shiach C.R., Lowe G.D.O., Connor J.M.
Hum. Genet. 95:531-538(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888.
Ref.52
"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies."
Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.
Am. J. Hum. Genet. 58:657-670(1996) [PubMed] [Europe PMC] [Abstract]
Becker J., Schwaab R., Moeller-Taube A., Schwaab U., Schmidt W., Brackmann H.H., Grimm T., Olek K., Oldenburg J.
Am. J. Hum. Genet. 58:657-670(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344.
Ref.53
"Molecular characterization of haemophilia A in southern Chinese."
Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.
Br. J. Haematol. 93:451-456(1996) [PubMed] [Europe PMC] [Abstract]
Chan V., Pang A., Chan T.P.T., Chan V.W.-Y., Chan T.K.
Br. J. Haematol. 93:451-456(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169, VARIANT MET-2242.
Ref.54
"Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods."
Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.
Br. J. Haematol. 94:400-406(1996) [PubMed] [Europe PMC] [Abstract]
Rudzki Z., Duncan E.M., Casey G.J., Neumann M., Favaloro E.J., Lloyd J.V.
Br. J. Haematol. 94:400-406(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951.
Ref.55
"Mutations in the FVIII gene in seven families with mild haemophilia A."
Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.
Br. J. Haematol. 96:426-427(1997) [PubMed] [Europe PMC] [Abstract]
Mazurier C., Gaucher C., Jorieux S., Parquet-Gernez A.
Br. J. Haematol. 96:426-427(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966.
Ref.56
"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism."
Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.
Br. J. Haematol. 98:901-906(1997) [PubMed] [Europe PMC] [Abstract]
Morichika S., Shima M., Kamisue S., Tanaka I., Imanaka Y., Suzuki H., Shibata H., Pemberton S., Gale K., McVey J., Tuddenham E.G.D., Yoshioka A.
Br. J. Haematol. 98:901-906(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304.
Ref.57
"Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations."
Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Genet. 100:508-511(1997) [PubMed] [Europe PMC] [Abstract]
Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Genet. 100:508-511(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106.
Ref.58
"A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins."
Liu M., Murphy M.E.P., Thompson A.R.
Br. J. Haematol. 103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]
Liu M., Murphy M.E.P., Thompson A.R.
Br. J. Haematol. 103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038.
Ref.59
"Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts."
Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C., Demaille J., Claustres M.
Hum. Mutat. 11:18-22(1998) [PubMed] [Europe PMC] [Abstract]
Maugard C., Tuffery S., Aguilar-Martinez P., Schved J.-F., Gris J.-C., Demaille J., Claustres M.
Hum. Mutat. 11:18-22(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800.
Ref.60
"Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes."
Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H.
Hum. Mutat. 11:334-334(1998) [PubMed] [Europe PMC] [Abstract]
Theophilus B.D.M., Enayat M.S., Higuchi M., Kazazian H.H. Jr., Antonarakis S.E., Hill F.G.H.
Hum. Mutat. 11:334-334(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA HIS-2182.
Ref.61
"Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene."
Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J., Cassiman J.-J., Matthijs G.
Hum. Mutat. 11:470-479(1998) [PubMed] [Europe PMC] [Abstract]
Freson K., Peerlinck K., Aguirre T., Arnout J., Vermylen J., Cassiman J.-J., Matthijs G.
Hum. Mutat. 11:470-479(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105.
Ref.62
"Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)."
Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.
Hum. Mutat. Suppl. 1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]
Tavassoli K., Eigel A., Dworniczak B., Valtseva E., Horst J.
Hum. Mutat. Suppl. 1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204.
Ref.63
"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping."
Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.
Hum. Mutat. 12:301-303(1998) [PubMed] [Europe PMC] [Abstract]
Tavassoli K., Eigel A., Wilke K., Pollmann H., Horst J.
Hum. Mutat. 12:301-303(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA.
Ref.64
"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene."
Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.
Hum. Mutat. 12:393-402(1998) [PubMed] [Europe PMC] [Abstract]
Laprise S.L., Mak E.K., Killoran K.A., Layman L.C., Gray M.R.
Hum. Mutat. 12:393-402(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319.
Ref.65
"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis."
Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G., Wright J., Peake I.R., Goodeve A.C.
Thromb. Haemost. 79:723-726(1998) [PubMed] [Europe PMC] [Abstract]
Williams I.J., Abuzenadah A., Winship P.R., Preston F.E., Dolan G., Wright J., Peake I.R., Goodeve A.C.
Thromb. Haemost. 79:723-726(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279, VARIANT VAL-2257.
Ref.66
"Factor VIII inhibitors in mild and moderate-severity haemophilia A."
UK haemophilia centre directors organisation
Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.
Thromb. Haemost. 79:762-766(1998) [PubMed] [Europe PMC] [Abstract]
UK haemophilia centre directors organisation
Hay C.R.M., Ludlam C.A., Colvin B.T., Hill F.G.H., Preston F.E., Wasseem N., Bagnall R., Peake I.R., Berntorp E., Mauser Bunschoten E.P., Fijnvandraat K., Kasper C.K., White G., Santagostino E.
Thromb. Haemost. 79:762-766(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279.
Ref.67
"Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain."
Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.
Br. J. Haematol. 105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]
Keeling D.M., Sukhu K., Kemball-Cook G., Waseem N., Bagnall R., Lloyd J.V.
Br. J. Haematol. 105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-1973.
Ref.68
"Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum."
Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.
Hum. Mutat. 13:413-413(1999) [PubMed] [Europe PMC] [Abstract]
Strmecki L., Benedik-Dolnicar M., Vouk K., Komel R.
Hum. Mutat. 13:413-413(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326.
Ref.69
"Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation."
Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Mutat. 13:504-504(1999) [PubMed] [Europe PMC] [Abstract]
Moeller-Morlang K., Tavassoli K., Eigel A., Pollmann H., Horst J.
Hum. Mutat. 13:504-504(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-202 AND HIS-301.
Ref.70
"Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch."
The haemophilia centres
Waseem N.H., Bagnall R., Green P.M., Giannelli F.
Thromb. Haemost. 81:900-905(1999) [PubMed] [Europe PMC] [Abstract]
The haemophilia centres
Waseem N.H., Bagnall R., Green P.M., Giannelli F.
Thromb. Haemost. 81:900-905(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326.
Ref.71
"A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor."
Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.
Blood 96:958-965(2000) [PubMed] [Europe PMC] [Abstract]
Jacquemin M., Lavend'homme R., Benhida A., Vanzieleghem B., d'Oiron R., Lavergne J.-M., Brackmann H.H., Schwaab R., VandenDriessche T., Chuah M.K.L., Hoylaerts M., Gilles J.G.G., Peerlinck K., Vermylen J., Saint-Remy J.-M.R.
Blood 96:958-965(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172, CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169.
Ref.72
"Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure."
Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.
Blood 96:979-987(2000) [PubMed] [Europe PMC] [Abstract]
Liu M.-L., Shen B.W., Nakaya S., Pratt K.P., Fujikawa K., Davie E.W., Stoddard B.L., Thompson A.R.
Blood 96:979-987(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339.
Ref.73
"Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A."
Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.
Br. J. Haematol. 108:241-246(2000) [PubMed] [Europe PMC] [Abstract]
Roelse J.C., De Laaf R.T.M., Timmermans S.M.H., Peters M., Van Mourik J.A., Voorberg J.
Br. J. Haematol. 108:241-246(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-612 AND SER-637, CHARACTERIZATION OF VARIANTS HEMA CYS-612 AND SER-637.
Ref.74
"Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family."
Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.
Br. J. Haematol. 109:523-528(2000) [PubMed] [Europe PMC] [Abstract]
Schwaab R., Oldenburg J., Kemball-Cook G., Albert T., Juhler C., Hanfland P., Ingerslev J.
Br. J. Haematol. 109:523-528(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA ILE-713.
Ref.75
"Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis."
Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.
Haematologica 85:525-529(2000) [PubMed] [Europe PMC] [Abstract]
Tagariello G., Belvini D., Salviato R., Are A., De Biasi E., Goodeve A., Davoli P.
Haematologica 85:525-529(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332.
Ref.76
"Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)."
Recombinate PUP study group
Goodeve A.C., Williams I., Bray G.L., Peake I.R.
Thromb. Haemost. 83:844-848(2000) [PubMed] [Europe PMC] [Abstract]
Recombinate PUP study group
Goodeve A.C., Williams I., Bray G.L., Peake I.R.
Thromb. Haemost. 83:844-848(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000; HIS-2169 AND PRO-2228.
Ref.77
"Mutations of the factor VIII gene in Thai hemophilia A patients."
Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.
Hum. Mutat. 15:117-118(2000) [PubMed] [Europe PMC] [Abstract]
Akkarapatumwong V., Oranwiroon S., Pung-amritt P., Treesucon A., Thanootarakul P., Veerakul G., Mahasandana C., Panyim S., Yenchitsomanus P.
Hum. Mutat. 15:117-118(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344.
Ref.78
"Somatic mosaicism in hemophilia A: a fairly common event."
Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.
Am. J. Hum. Genet. 69:75-87(2001) [PubMed] [Europe PMC] [Abstract]
Leuer M., Oldenburg J., Lavergne J.-M., Ludwig M., Fregin A., Eigel A., Ljung R., Goodeve A., Peake I., Olek K.
Am. J. Hum. Genet. 69:75-87(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498; ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182; SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326.
Ref.79
"Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data."
Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.
Br. J. Haematol. 112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]
Ivaskevicius V., Jurgutis R., Rost S., Muller A., Schmitt C., Wulff K., Herrmann F.H., Muller C.R., Schwaab R., Oldenburg J.
Br. J. Haematol. 112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307.
Ref.80
"Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A."
Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.
Haemophilia 7:381-391(2001) [PubMed] [Europe PMC] [Abstract]
Theophilus B.D.M., Enayat M.S., Williams M.D., Hill F.G.H.
Haemophilia 7:381-391(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228.
Ref.81
"Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation."
Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.
Haemophilia 7:419-421(2001) [PubMed] [Europe PMC] [Abstract]
Bauduer F., Ducout L., Bendriss P., Falaises B., Lavergne J.-M.
Haemophilia 7:419-421(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA ALA-92.
Ref.82
"Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations."
Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K., Caglayan S.H.
Haemophilia 7:475-481(2001) [PubMed] [Europe PMC] [Abstract]
Timur A.A., Guergey A., Aktuglu G., Kavakli K., Canatan D., Olek K., Caglayan S.H.
Haemophilia 7:475-481(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323.
Ref.83
"Seven novel and four recurrent point mutations in the factor VIII (F8C) gene."
Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A., Horst J.
Hum. Mutat. 18:546-546(2001) [PubMed] [Europe PMC] [Abstract]
Bogdanova N., Lemcke B., Markoff A., Pollmann H., Dworniczak B., Eigel A., Horst J.
Hum. Mutat. 18:546-546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326.
Ref.84
"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations."
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.
Thromb. Haemost. 85:580-583(2001) [PubMed] [Europe PMC] [Abstract]
Vidal F., Farssac E., Altisent C., Puig L., Gallardo D.
Thromb. Haemost. 85:580-583(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182.
Ref.85
"Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A."
Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M., Negrier C.
Blood 100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]
Valleix S., Vinciguerra C., Lavergne J.-M., Leuer M., Delpech M., Negrier C.
Blood 100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA CYS-35.
Ref.86
"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.
Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]
Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.
Br. J. Haematol. 119:390-392(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA GLY-198.
Ref.87
"Three novel point mutations causing haemophilia A."
Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S., Efremov G.D.
Haemophilia 8:715-718(2002) [PubMed] [Europe PMC] [Abstract]
Sukarova-Stefanovska E., Zisovski N., Muratovska O., Kostova S., Efremov G.D.
Haemophilia 8:715-718(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PRO-97 AND GLY-2193.
Ref.88
"The identification and classification of 41 novel mutations in the factor VIII gene (F8C)."
Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.
Hum. Mutat. 19:274-278(2002) [PubMed] [Europe PMC] [Abstract]
Cutler J.A., Mitchell M.J., Smith M.P., Savidge G.F.
Hum. Mutat. 19:274-278(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330.
Ref.89
"Identification of seven novel mutations of F8C by DHPLC."
Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G., Morfini M., Torricelli F.
Hum. Mutat. 20:231-232(2002) [PubMed] [Europe PMC] [Abstract]
Frusconi S., Passerini I., Girolami F., Masieri M., Linari S., Longo G., Morfini M., Torricelli F.
Hum. Mutat. 20:231-232(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330.
Ref.90
"High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation."
Citron M., Godmilow L., Ganguly T., Ganguly A.
Hum. Mutat. 20:267-274(2002) [PubMed] [Europe PMC] [Abstract]
Citron M., Godmilow L., Ganguly T., Ganguly A.
Hum. Mutat. 20:267-274(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439; CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875; ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251; LEU-2290; CYS-2323 AND TYR-2345.
Ref.91
"Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses."
Liu M.-L., Nakaya S., Thompson A.R.
Thromb. Haemost. 87:273-276(2002) [PubMed] [Europe PMC] [Abstract]
Liu M.-L., Nakaya S., Thompson A.R.
Thromb. Haemost. 87:273-276(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326.
Ref.92
"11 hemophilia A patients without mutations in the factor VIII encoding gene."
Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.
Thromb. Haemost. 88:357-360(2002) [PubMed] [Europe PMC] [Abstract]
Klopp N., Oldenburg J., Uen C., Schneppenheim R., Graw J.
Thromb. Haemost. 88:357-360(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326, VARIANT GLU-1260.
Ref.93
"Analysis of 18 novel mutations in the factor VIII gene."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.
Br. J. Haematol. 122:810-817(2003) [PubMed] [Europe PMC] [Abstract]
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Boeri E., Mori P.G., Molinari A.C., Rosano C., Acquila M.
Br. J. Haematol. 122:810-817(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS.
Ref.94
"Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions."
Habart D., Kalabova D., Novotny M., Vorlova Z.
J. Thromb. Haemost. 1:773-781(2003) [PubMed] [Europe PMC] [Abstract]
Habart D., Kalabova D., Novotny M., Vorlova Z.
J. Thromb. Haemost. 1:773-781(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345.
Ref.95
"Genotype and phenotype of haemophilia A in Thai patients."
Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.
Haemophilia 9:179-186(2003) [PubMed] [Europe PMC] [Abstract]
Yenchitsomanus P., Akkarapatumwong V., Pung-Amritt P., Intorasoot S., Thanootarakul P., Oranwiroon S., Veerakul G., Mahasandana C.
Haemophilia 9:179-186(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344.
Ref.96
"Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations."
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.
Am. J. Hematol. 78:117-122(2005) [PubMed] [Europe PMC] [Abstract]
Bicocchi M.P., Pasino M., Lanza T., Bottini F., Molinari A.C., Caprino D., Rosano C., Acquila M.
Am. J. Hematol. 78:117-122(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251.
Ref.97
"Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype."
Hill M., Deam S., Gordon B., Dolan G.
Haemophilia 11:133-141(2005) [PubMed] [Europe PMC] [Abstract]
Hill M., Deam S., Gordon B., Dolan G.
Haemophilia 11:133-141(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067; LEU-2162 AND HIS-2182.
Ref.98
"Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII."
Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.
J. Thromb. Haemost. 4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]
Cai X.-H., Wang X.-F., Dai J., Fang Y., Ding Q.-L., Xie F., Wang H.-L.
J. Thromb. Haemost. 4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA PRO-1994.
Ref.99
"Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites."
Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.
Blood 111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]
Vencesla A., Corral-Rodriguez M.A., Baena M., Cornet M., Domenech M., Baiget M., Fuentes-Prior P., Tizzano E.F.
Blood 111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA ARG-83; ASN-186; PRO-195; PRO-261; ASP-280; SER-394; VAL-474; ARG-496; VAL-513; ARG-569; ILE-637; VAL-1720; LEU-1762; ASP-2101; PRO-2106; VAL-2143; LEU-2172; GLY-2286 AND PHE-2336.
Ref.100
"Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations."
Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.
Haemophilia 17:913-918(2011) [PubMed] [Europe PMC] [Abstract]
Albanez S., Ruiz-Saez A., Boadas A., De Bosch N., Porco A.
Haemophilia 17:913-918(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344.
Ref.101
"Factor VIII Antigen, Activity, and Mutations in Hemophilia A."
Nair P.S., Shetty S., Ghosh K.
Clin. Appl. Thromb. Hemost. 22:381-385(2016) [PubMed] [Europe PMC] [Abstract]
Nair P.S., Shetty S., Ghosh K.
Clin. Appl. Thromb. Hemost. 22:381-385(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HEMA SER-439 AND THR-723.
Ref.102
"Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity."
Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.
J. Thromb. Haemost. 13:1843-1853(2015) [PubMed] [Europe PMC] [Abstract]
Yada K., Nogami K., Takeyama M., Ogiwara K., Wakabayashi H., Shima M.
J. Thromb. Haemost. 13:1843-1853(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HEMA LEU-1828, CHARACTERIZATION OF VARIANT HEMA LEU-1828.
The disease is caused by mutations affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.
Disease descriptionA disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
See also OMIM:306700| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_028447 | 19 | S → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028448 | 22 | R → T in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028449 | 24 | Y → C in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028450 | 25 | Y → C in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028451 | 26 | L → P in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001045 | 26 | L → R in HEMA; severe. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001046 | 30 | E → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028452 | 33 | W → G in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028453 | 35 | Y → C in HEMA; mild/severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028454 | 35 | Y → H in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001047 | 41 | G → C in HEMA; severe/moderate. Corresponds to variant dbSNP:rs137852379EnsemblClinVar. | 1 | |
| Natural variantiVAR_001048 | 48 | R → C in HEMA; severe. | 1 | |
| Natural variantiVAR_028455 | 48 | R → K in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028456 | 67 | K → E in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028457 | 67 | K → N in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028458 | 69 | L → P in HEMA; moderate-severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017330 | 72 | E → K in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028459 | 75 | D → E in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028460 | 75 | D → Y in HEMA; moderate-severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065303 | 83 | P → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028461 | 84 – 85 | Missing in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 2 | |
| Natural variantiVAR_028462 | 85 | Missing in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001050 | 89 | G → D in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001051 | 89 | G → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028463 | 92 | G → A in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028464 | 92 | G → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017331 | 97 | A → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028465 | 98 | E → K in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001052 | 99 | V → D in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028466 | 101 | D → G in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028467 | 101 | D → H in HEMA; severe sporadic. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028468 | 101 | D → V in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001053 | 104 | V → D in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001054 | 108 | K → T in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001055 | 110 | M → V in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028469 | 111 | A → T in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028470 | 111 | A → V in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028471 | 113 | H → R in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028472 | 113 | H → Y in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028473 | 117 | L → F in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001056 | 117 | L → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028474 | 121 | G → S in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001057 | 129 | E → V in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001058 | 130 | G → R in HEMA; severe. Corresponds to variant dbSNP:rs137852387EnsemblClinVar. | 1 | |
| Natural variantiVAR_001059 | 132 | E → D in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001060 | 133 | Y → C in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001061 | 135 | D → G in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028475 | 135 | D → Y in HEMA; severe sporadic. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028476 | 137 | T → A in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001062 | 137 | T → I in HEMA; moderate. Corresponds to variant dbSNP:rs137852391EnsemblClinVar. | 1 | |
| Natural variantiVAR_028477 | 138 | S → R in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028478 | 141 | E → K in HEMA; severe familial. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028479 | 145 | D → H in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028480 | 147 | V → D in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017332 | 155 | Y → H in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028481 | 159 | V → A in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028482 | 163 | N → K in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028483 | 164 | G → D in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001063 | 164 | G → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001064 | 165 | P → S in HEMA; severe. Corresponds to variant dbSNP:rs137852393EnsemblClinVar. | 1 | |
| Natural variantiVAR_028484 | 172 | C → W in HEMA. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028485 | 176 | S → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028486 | 179 | S → P in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017333 | 181 | V → E in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001065 | 181 | V → M in HEMA; mild/moderate. 6 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001066 | 185 | K → T in HEMA; mild. Corresponds to variant dbSNP:rs137852395EnsemblClinVar. | 1 | |
| Natural variantiVAR_028487 | 186 | D → G in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065304 | 186 | D → N in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028488 | 186 | D → Y in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001067 | 189 | S → L in HEMA; moderate. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065305 | 191 | L → F in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028489 | 193 | G → R in HEMA; severe familial. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065306 | 195 | L → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028490 | 198 | C → G in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028491 | 202 | S → N in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008123 | 202 | S → R in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028492 | 214 | F → V in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028493 | 217 | L → H in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028494 | 219 | A → D in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028495 | 219 | A → T in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028496 | 220 | V → G in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001068 | 222 | D → V in HEMA; moderate. Corresponds to variant dbSNP:rs137852396EnsemblClinVar. | 1 | |
| Natural variantiVAR_028497 | 223 | E → K in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001069 | 224 | G → W in HEMA; moderate. Corresponds to variant dbSNP:rs137852397EnsemblClinVar. | 1 | |
| Natural variantiVAR_028498 | 252 | T → I in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001070 | 253 | V → F in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017334 | 254 | N → I in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015127 | 255 | G → V in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065307 | 261 | L → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028499 | 262 | P → L in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028500 | 263 | G → S in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001071 | 266 | G → E in HEMA; severe. Corresponds to variant dbSNP:rs137852398EnsemblClinVar. | 1 | |
| Natural variantiVAR_028501 | 267 | C → Y in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028502 | 274 | W → C in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028503 | 275 | H → L in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001072 | 278 | G → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065308 | 280 | G → D in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028504 | 284 | E → K in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001073 | 285 | V → G in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001074 | 291 | E → G in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028505 | 291 | E → K in HEMA; mild. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001075 | 294 | T → I in HEMA; moderate. Corresponds to variant dbSNP:rs137852401EnsemblClinVar. | 1 | |
| Natural variantiVAR_028506 | 295 | F → L in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028507 | 297 | V → A in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001076 | 299 | N → I in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028508 | 301 | R → C in HEMA; severe/mild. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001077 | 301 | R → H in HEMA; severe. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001078 | 301 | R → L in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028509 | 302 | Missing in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028510 | 303 | A → E in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028511 | 303 | A → P in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028512 | 307 | I → S in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001079 | 308 | S → L in HEMA; moderate. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001080 | 312 | F → S in HEMA; mild/moderate. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001081 | 314 | T → A in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001082 | 314 | T → I in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028513 | 315 | A → V in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028514 | 320 | Missing in HEMA; severe. | 1 | |
| Natural variantiVAR_015128 | 323 | G → E in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028515 | 326 | L → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001083 | 327 | L → P in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028516 | 327 | L → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028517 | 329 | C → F in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001084 | 331 | I → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028518 | 339 | M → T in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028519 | 340 | E → K in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028520 | 345 | V → A in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001085 | 345 | V → L in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001086 | 348 | C → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001087 | 348 | C → S in HEMA; moderate. Corresponds to variant dbSNP:rs137852410EnsemblClinVar. | 1 | |
| Natural variantiVAR_001088 | 348 | C → Y in HEMA; mild/severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028521 | 365 | Y → C in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001089 | 391 | R → C in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001090 | 391 | R → H in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001091 | 391 | R → P in HEMA; severe; abolishes the normal cleavage by thrombin. | 1 | |
| Natural variantiVAR_001092 | 392 | S → L in HEMA; mild; abolishes normal cleavage by thrombin. Corresponds to variant dbSNP:rs28933668EnsemblClinVar. | 1 | |
| Natural variantiVAR_001093 | 392 | S → P in HEMA; mild. Corresponds to variant dbSNP:rs28933669EnsemblClinVar. | 1 | |
| Natural variantiVAR_065309 | 394 | A → S in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028522 | 401 | W → G in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028523 | 405 | I → F in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001094 | 405 | I → S in HEMA; severe. Corresponds to variant dbSNP:rs28933670EnsemblClinVar. | 1 | |
| Natural variantiVAR_001095 | 409 | E → G in HEMA; severe/moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028524 | 412 | W → G in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028525 | 412 | W → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028526 | 427 | K → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001096 | 431 | L → F in HEMA; moderate. Corresponds to variant dbSNP:rs28933672EnsemblClinVar. | 1 | |
| Natural variantiVAR_028527 | 431 | L → S in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028528 | 437 | R → P in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028529 | 437 | R → W in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028530 | 438 | I → F in HEMA; not severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028531 | 439 | G → D in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017335 | 439 | G → S in HEMA; moderate. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001097 | 439 | G → V in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028532 | 442 | Y → C in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001098 | 444 | K → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028533 | 450 | Y → D in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001099 | 450 | Y → N in HEMA; mild/moderate. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028534 | 454 | T → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028535 | 455 | F → C in HEMA; mild-moderate/severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028536 | 466 | G → E in HEMA; severe sporadic. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028537 | 470 | P → L in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028538 | 470 | P → R in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028539 | 470 | P → T in HEMA; mild sporadic. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028540 | 474 | G → E in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001100 | 474 | G → R in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065310 | 474 | G → V in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028541 | 475 | E → K in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028542 | 477 | G → V in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028543 | 478 | D → N in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028544 | 479 | T → R in HEMA. | 1 | |
| Natural variantiVAR_028545 | 484 | F → C in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001101 | 488 | A → G in HEMA; moderate. Corresponds to variant dbSNP:rs782485864Ensembl. | 1 | |
| Natural variantiVAR_028546 | 490 | R → G in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001103 | 492 | Y → C in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001102 | 492 | Y → H in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001104 | 494 | I → T in HEMA; mild. Corresponds to variant dbSNP:rs137852413EnsemblClinVar. | 1 | |
| Natural variantiVAR_065311 | 496 | P → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001105 | 498 | G → R in HEMA; severe/moderate. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028547 | 503 | R → H in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028548 | 513 | G → S in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065312 | 513 | G → V in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028549 | 522 | I → Y in HEMA; requires 2 nucleotide substitutions. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017336 | 529 | K → E in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028550 | 532 | W → G in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028551 | 540 | P → T in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028552 | 541 | T → S in HEMA; mild. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001106 | 544 | D → N in HEMA; moderate. Corresponds to variant dbSNP:rs137852415EnsemblClinVar. | 1 | |
| Natural variantiVAR_001107 | 546 | R → W in HEMA; mild. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001108 | 550 | R → C in HEMA; mild/moderate. 6 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001109 | 550 | R → G in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001110 | 550 | R → H in HEMA; mild/moderate. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028553 | 553 | S → P in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028554 | 554 | S → C in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001111 | 554 | S → G in HEMA; mild. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001112 | 556 | V → D in HEMA; moderate. | 1 | |
| Natural variantiVAR_028555 | 560 | R → T in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028556 | 561 | D → G in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028557 | 561 | D → H in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008967 | 561 | D → Y in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_017337 | 567 | I → T in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065313 | 569 | P → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001113 | 577 | S → F in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028558 | 578 | V → A in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028559 | 579 | D → A in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028560 | 579 | D → H in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028561 | 583 | N → S in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028562 | 584 | Q → H in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001114 | 584 | Q → K in HEMA; moderate. Corresponds to variant dbSNP:rs137852422EnsemblClinVar. | 1 | |
| Natural variantiVAR_028563 | 584 | Q → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028564 | 585 | I → R in HEMA; moderate-severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001115 | 585 | I → T in HEMA; severe/moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_015129 | 586 | M → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028565 | 588 | D → G in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028566 | 588 | D → Y in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028567 | 594 | L → Q in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001116 | 596 | S → P in HEMA; severe. Corresponds to variant dbSNP:rs137852423Ensembl. | 1 | |
| Natural variantiVAR_028568 | 601 | N → D in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028569 | 601 | N → K in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028570 | 602 | R → G in HEMA; mild familial. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001117 | 603 | S → I in HEMA. Corresponds to variant dbSNP:rs137852425EnsemblClinVar. | 1 | |
| Natural variantiVAR_028571 | 603 | S → R in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001118 | 604 | W → C in HEMA; severe. Corresponds to variant dbSNP:rs137852426EnsemblClinVar. | 1 | |
| Natural variantiVAR_028572 | 605 | Y → H in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001119 | 605 | Y → S in HEMA; severe. Corresponds to variant dbSNP:rs137852427EnsemblClinVar. | 1 | |
| Natural variantiVAR_028573 | 609 | N → I in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001120 | 612 | R → C in HEMA; mild/moderate; secretion impaired. 11 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001121 | 631 | N → K in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001122 | 631 | N → S in HEMA. Corresponds to variant dbSNP:rs137852429EnsemblClinVar. | 1 | |
| Natural variantiVAR_028574 | 633 | M → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028575 | 635 | S → N in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028576 | 637 | N → D in HEMA; severe sporadic/moderate. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_065314 | 637 | N → I in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028577 | 637 | N → S in HEMA; mild; secretion impaired. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028578 | 639 | Y → C in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001123 | 644 | L → V in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028579 | 650 | L → F in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001124 | 653 | V → A in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001125 | 653 | V → M in HEMA; severe. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028580 | 659 | L → P in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001126 | 663 | A → V in HEMA; mild. Corresponds to variant dbSNP:rs137852433EnsemblClinVar. | 1 | |
| Natural variantiVAR_028581 | 664 | Q → P in HEMA; moderate-severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001127 | 671 | Missing in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001128 | 677 | F → L in HEMA; moderate. Corresponds to variant dbSNP:rs137852434EnsemblClinVar. | 1 | |
| Natural variantiVAR_028582 | 681 | M → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028583 | 682 | V → F in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028584 | 683 | Y → C in HEMA; severe. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028585 | 683 | Y → N in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028586 | 686 | T → R in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028587 | 698 | F → L in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028588 | 699 | M → T in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001129 | 699 | M → V in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028589 | 701 | M → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028590 | 705 | G → V in HEMA; moderate. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028591 | 710 | G → W in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028592 | 713 | N → I in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028593 | 717 | R → L in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001130 | 717 | R → W in HEMA; mild. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001131 | 720 | G → D in HEMA; severe/moderate. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028594 | 720 | G → S in HEMA. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028595 | 721 | M → I in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028596 | 721 | M → L in HEMA; mild. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001132 | 723 | A → T in HEMA; moderate. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_028597 | 725 | L → Q in HEMA; severe. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_001133 | 727 | V → F in HEMA; severe. |