Variant position: 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2351 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DSEMDVVRFDDDNSPSFIQI RSVAKKHPKTWVHYIAAEEED
Mouse -SEMDMFTLDYD-SSPFIQI RSVAKKYPKTWIHYISAEEED
Pig DSDMDVVRLDGDDVSPFIQI RSVAKKHPKTWVHYISAEEED
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
20 – 2351 Coagulation factor VIII
20 – 1332 Factor VIIIa heavy chain, 200 kDa isoform
20 – 759 Factor VIIIa heavy chain, 92 kDa isoform
391 – 392 Cleavage; by thrombin
9 – 2143 Missing. In isoform 2.
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)
Cited for: VARIANT HEMA HIS-391;
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.;
Cited for: VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178;
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)
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;
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)
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;
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)
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;
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