UniProtKB/SwissProt variant VAR

Coagulation factor IX
Gene: F9
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Variant information Variant position:

37 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Alanine (A) to Valine (V) at position 37 (A37V, p.Ala37Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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
Variant description:

In WARFS; 2.5-fold decreased in the EC(50) for warfarin. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1327097914 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ICLLGYLLSAECTVFLDHEN A NKILNRPKRYNSGKLEEFVQ 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                         ICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQ

                              VCLLGYLLSAECAVFLDRENATKILSRPKRYNSGKLEEFVR

Chimpanzee                    ICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQ

Mouse                         IFLLGYLLSTECAVFLDRENATKILTRPKRYNSGKLEEFVR

Rat                           IFLLGYLLSTECAVFLDRENATKILTRPKRYNSGKLEEFVQ

Bovine                        ICLLGYLLSAECTVFLDRENATKILHRPKRYNSGKLEEFVR

Cat                           ICLLGYLLGADCTVFLDHEDATKVLSRPKRYNSGKLEEFVQ

Chicken                       FCLLEAFLGAESTVFIENKEASTVLSRTRRGNSNRLEELIP

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
Propeptide	29 – 46
Binding site	47 – 47
Binding site	48 – 48
Binding site	53 – 53	via 4-carboxyglutamate
Binding site	53 – 53	via 4-carboxyglutamate
Binding site	54 – 54	via 4-carboxyglutamate
Binding site	54 – 54	via 4-carboxyglutamate
Modified residue	53 – 53	4-carboxyglutamate
Modified residue	54 – 54	4-carboxyglutamate

Literature citations
Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy.
Oldenburg J.; Quenzel E.M.; Harbrecht U.; Fregin A.; Kress W.; Mueller C.R.; Hertfelder H.J.; Schwaab R.; Brackmann H.H.; Hanfland P.;
Br. J. Haematol. 98:240-244(1997)
Cited for: VARIANTS WARFS THR-37 AND VAL-37; Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.
Pezeshkpoor B.; Czogalla K.J.; Caspers M.; Berkemeier A.C.; Liphardt K.; Ghosh S.; Kellner M.; Ulrich S.; Pavlova A.; Oldenburg J.;
Ann. Hematol. 97:1061-1069(2018)
Cited for: VARIANTS WARFS THR-37 AND VAL-37; CHARACTERIZATION OF VARIANTS WARFS THR-37 AND VAL-37;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Ala37Val