Variant position: 308 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 IFLEGHTFLVRNHRQASLEI SPITFLTAQTLLMDLGQFLLF
Mouse IFLEGHTFFVRNHRQASLEI SPITFLTAQTLLIDLGQFLLF
Pig IFLEGHTFLVRHHRQASLEI SPLTFLTAQTFLMDLGQFLLF
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
206 – 348 Plastocyanin-like 2
267 – 348
9 – 2143 Missing. In isoform 2.
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;
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)
Cited for: VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951;
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)
Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326;
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.