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UniProtKB/Swiss-Prot P12259: Variant p.His865Arg

Coagulation factor V
Gene: F5
Variant information

Variant position:  865
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 Histidine (H) to Arginine (R) at position 865 (H865R, p.His865Arg).
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:  Change from medium size and polar (H) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  865
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:   TGIRLLSLGAGEFKSQEHAK  H KGPKVERDQAAKHRFSWMKL
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                         TGIRLLSLGAGEFKSQEHAKHKGPKVERDQAAKHRFSWMKL

Mouse                         TMVYLLPLGPKGSGNREQDKPKTIKTGRPHMMKHRFSWMKA

Pig                           TGISLLPFGTEGFRNREHPKHKRFKAGRDQAAKHRFSQMEF

Bovine                        TGVSLLPFGT-GFKNRKPAKHQRFQVGRGQAAKHKFSQTRF

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
Propeptide 738 – 1573 Activation peptide (connecting region)
Region 692 – 1573 B
Modified residue 859 – 859 Phosphoserine; by FAM20C


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;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THPH2 GLN-534; VARIANTS SER-15; HIS-107; THR-413; LYS-513; SER-809; THR-817; ARG-858; ARG-865; SER-915; GLU-925; SER-969; LEU-980; GLN-1146; ILE-1285; SER-1404; ALA-1530 AND THR-2148;

Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats.
Kane W.H.; Ichinose A.; Hagen F.S.; Davie E.W.;
Biochemistry 26:6508-6514(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1600; VARIANTS ARG-858; ARG-865; GLU-925 AND ILE-1285;

Studies on hereditary deficiency of coagulation factor V.
Xie F.; Cheng F.; Zhu X.;
Zhonghua Xue Ye Xue Za Zhi 22:453-456(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 660-1598; VARIANTS ARG-858; ARG-865; GLU-925 AND PHE-1397;

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.