UniProtKB/Swiss-Prot P08709: Variant p.Arg413Gln

Coagulation factor VII
Gene: F7
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Variant information Variant position:

413 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 Arginine (R) to Glutamine (Q) at position 413 (R413Q, p.Arg413Gln). 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 large size and basic (R) to medium size and polar (Q) 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
Variant description:

May be associated with decreased susceptibility to myocardial infarction. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs6046 [ dbSNP | Ensembl ]

Sequence information Variant position:

413 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

466 The length of the canonical sequence.
Location on the sequence:

SDGSKDSCKGDSGGPHATHY R GTWYLTGIVSWGQGCATVGH 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                         SDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGH

Chimpanzee                    SDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCASVGH

Mouse                         MDGTKDACKGDSGGPHATHYHGTWYLTGVVSWGEGCAAIGH

Rat                           MDGTKDACKGDSGGPHATHYHGTWYLTGVVSWGEGCAAIGH

Bovine                        SDGSKDACKGDSGGPHATRFRGTWFLTGVVSWGEGCAAAGH

Rabbit                        LDGSKDACKGDSGGPHATSYHGTWYLTGVVSWGEGCAAVGH

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	213 – 466	Factor VII heavy chain
Domain	213 – 452	Peptidase S1
Active site	404 – 404	Charge relay system
Binding site	398 – 398
Disulfide bond	400 – 428

Literature citations
Human F7 sequence is split into three deep clades that are related to FVII plasma levels.
Sabater-Lleal M.; Soria J.M.; Bertranpetit J.; Almasy L.; Blangero J.; Fontcuberta J.; Calafell F.;
Hum. Genet. 118:741-751(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-354 AND GLN-413; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-352; GLN-413 AND LYS-445; Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.
Bernardi F.; Liney D.L.; Patracchini P.; Gemmati D.; Legnani C.; Arcieri P.; Pinotti M.; Redaelli R.; Ballerini G.; Pemberton S.; Wacey A.I.; Mariani G.; Tuddenham E.G.D.; Marchetti G.;
Br. J. Haematol. 86:610-618(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 354-412; VARIANTS FA7D ILE-358; GLN-364; PHE-370 AND ARG-402; VARIANT GLN-413; Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.
Bernardi F.; Castaman G.; Pinotti M.; Ferraresi P.; di Iasio M.G.; Lunghi B.; Rodeghiero F.; Marchetti G.;
Hum. Mutat. 8:108-115(1996)
Cited for: VARIANTS FA7D TRP-283; LYS-325; VAL-358; GLN-364 AND GLU-402; VARIANT GLN-413; 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: VARIANTS ASP-295 AND GLN-413; Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.
Girelli D.; Russo C.; Ferraresi P.; Olivieri O.; Pinotti M.; Friso S.; Manzato F.; Mazzucco A.; Bernardi F.; Corrocher R.;
N. Engl. J. Med. 343:774-780(2000)
Cited for: VARIANT GLN-413;

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.