Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Pro1828Leu

Coagulation factor VIII
Gene: F8
Feedback?
Variant information Variant position: help 1828 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Proline (P) to Leucine (L) at position 1828 (P1828L, p.Pro1828Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In HEMA; uncertain significance; decreases binding with VWF and phospholipid; no effect on reaction with F9, F2 and F10; decreases specific activity by 30%; patient develops inhibitor alloantibodies. Any additional useful information about the variant.


Sequence information Variant position: help 1828 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2351 The length of the canonical sequence.
Location on the sequence: help LISYEEDQRQGAEPRKNFVK P NETKTYFWKVQHHMAPTKDE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDE

                              LISYDEDEGQGAEPRRKFVNPNETKIYFWKVQHHMAPTKDE

Mouse                         LISYKEDQR-GEEPRRNFVKPNETKIYFWKVQHHMAPTEDE

Pig                           LISYPDDQEQGAEPRHNFVQPNETRTYFWKVQHHMAPTEDE

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 1713 – 2040 F5/8 type A 3
Domain 1713 – 1877 Plastocyanin-like 5
Glycosylation 1829 – 1829 N-linked (GlcNAc...) asparagine
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
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)
Cited for: VARIANT HEMA LEU-1828; CHARACTERIZATION OF VARIANT HEMA LEU-1828;
Disclaimer: 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.