UniProtKB/SwissProt variant VAR

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.

Variant rs4525 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12259: Variant p.His865Arg