Variant position: 202 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 DLVKDLNSGLIGALLVCREG SLAKEKTQTLHKFILLFAVFD
Mouse DLVKDLNSGLIGALLVCKEG SLSKERTQMLYQFVLLFAVFD
Pig DLVKDLNSGLIGALLVCREG SLTRERTQNLHEFVLLFAVFD
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
20 – 348 F5/8 type A 1
9 – 2143 Missing. In isoform 2.
Factor VIII inhibitors in mild and moderate-severity haemophilia A.
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)
Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279;
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)
Cited for: VARIANTS HEMA ARG-202 AND HIS-301;
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.