Sequence information
Variant position: 181 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: V DLVKDLNSGLIGALLVCREG
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 KENGPMASDPLCLTYSYLSHV DLVKDLNSGLIGALLVCREG
KENGPMASDPPCLTYSYFSHV DLVKDLNSGLIGALLVCKEG
Mouse KENGPMASDPPCLTYSYMSHV DLVKDLNSGLIGALLVCKEG
Pig KENGPTASDPPCLTYSYLSHV DLVKDLNSGLIGALLVCREG
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
Chain
20 – 2351 Coagulation factor VIII
Chain
20 – 1332 Factor VIIIa heavy chain, 200 kDa isoform
Chain
20 – 759 Factor VIIIa heavy chain, 92 kDa isoform
Domain
20 – 348 F5/8 type A 1
Domain
20 – 198 Plastocyanin-like 1
Disulfide bond
172 – 198
Alternative sequence
9 – 2143 Missing. In isoform 2.
Literature citations
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) 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;
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) Cited for: VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888;
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;
Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch.
Waseem N.H.; Bagnall R.; Green P.M.; Giannelli F.;
Thromb. Haemost. 81:900-905(1999) 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;
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) Cited for: VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326;
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) 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;
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Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.