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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00451: Variant p.Ile2051Ser

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 2051 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Isoleucine (I) to Serine (S) at position 2051 (I2051S, p.Ile2051Ser). 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 Change from medium size and hydrophobic (I) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; severe. Any additional useful information about the variant.


Sequence information Variant position: help 2051 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 TLFLVYSNKCQTPLGMASGH I RDFQITASGQYGQWAPKLAR 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                         TLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLAR

                              TLFLVYSKKCQTPLGMASGHIRDFQITASGQYGQWAPKLAR

Mouse                         TLFLVYSKQCQIPLGMASGSIRDFQITASGHYGQWAPNLAR

Pig                           TTFLVYSKECQAPLGMASGRIRDFQITASGQYGQWAPKLAR
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 2040 – 2188 F5/8 type C 1
Disulfide bond 2040 – 2188
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
Analysis of 18 novel mutations in the factor VIII gene.
Bicocchi M.P.; Pasino M.; Lanza T.; Bottini F.; Boeri E.; Mori P.G.; Molinari A.C.; Rosano C.; Acquila M.;
Br. J. Haematol. 122:810-817(2003)
Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS;
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.