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UniProtKB/Swiss-Prot P12259: Variant p.Met1764Val

Coagulation factor V
Gene: F5
Variant information

Variant position:  1764
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Methionine (M) to Valine (V) at position 1764 (M1764V, p.Met1764Val).
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:  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:  1
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1764
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2224
The length of the canonical sequence.

Location on the sequence:   LIGPLLICQKGILHKDSNMP  M DMREFVLLFMTFDEKKSWYY
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                         LIGPLLICQKGILHKDSNMPMDMREFVLLFMTFDEKKSWYY

Mouse                         LIGPLLICRKGTLHMERNLPMDMREFVLLFMVFDEKKSWYY

Pig                           LIGPLLICRKGTLHKENNMPVDMREFVLLFMVFDEKKSWYY

Bovine                        LIGPLLICRKGTLDKETNMPVDMREFVLLFMVFDEKKSWYY

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.

TypePositionsDescription
Chain 29 – 2224 Coagulation factor V
Chain 1574 – 2224 Coagulation factor V light chain
Domain 1578 – 1907 F5/8 type A 3
Domain 1761 – 1907 Plastocyanin-like 6


Literature citations

Complete cDNA and derived amino acid sequence of human factor V.
Jenny R.J.; Pittman D.D.; Toole J.J.; Kriz R.W.; Aldape R.A.; Hewick R.M.; Kaufman R.J.; Mann K.G.;
Proc. Natl. Acad. Sci. U.S.A. 84:4846-4850(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEOLYTIC CLEAVAGE AT ARG-737; ARG-1046 AND ARG-1573 BY THROMBIN; VARIANTS ARG-858; ARG-865; GLU-925; PHE-1397 AND VAL-1764;

A polymorphism in the human coagulation factor V gene.
Bayston T.A.; Ireland H.; Olds R.J.; Thein S.L.; Lane D.A.;
Hum. Mol. Genet. 3:2085-2085(1994)
Cited for: VARIANT VAL-1764;

Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANT THPH2 GLN-534; VARIANTS HIS-107; THR-413; LYS-513; SER-809; THR-817; ARG-858; ARG-865; GLU-925; GLN-1146; ALA-1530; SER-1685; VAL-1749; VAL-1764; ILE-1820 AND GLY-2222;

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.