UniProtKB/SwissProt variant VAR

Variant information

Variant position:

384

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 Arginine (R) to Leucine (L) at position 384 (R384L, p.Arg384Leu).

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 hydrophobic (L)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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 THPH8; factor IX Padua; higher specific activity than wild-type.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852283 [ dbSNP | Ensembl ]

Sequence information

Variant position:

384

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:

RSALVLQYLRVPLVDRATCL R STKFTIYNNMFCAGFHEGGR

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                         RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGR

                              RSASILQYLKVPLVDRATCLRSTKFTIYNNMFCAGFHEGGK

Chimpanzee                    RSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGR

Mouse                         RQASILQYLRVPLVDRATCLRSTTFTIYNNMFCAGYREGGK

Rat                           RQASILQYLRVPLVDRATCLRSTKFSIYNNMFCAGYREGGK

Bovine                        RSASILQYLKVPLVDRATCLRSTKFSIYSHMFCAGYHEGGK

Cat                           RPATILQYLKVPLVDRATCLRSTKFTIYNNMFCAGFHEGGK

Chicken                       RSAIVLQVLTVPFVDRVTCLKSTSTTILHSMFCAGYTAGGK

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	47 – 461	Coagulation factor IX
Chain	227 – 461	Coagulation factor IXa heavy chain
Domain	227 – 459	Peptidase S1
Disulfide bond	382 – 396
Mutagenesis	391 – 391	Y -> T. Strongly increases enzyme activity with a synthetic peptide substrate; when associated with F-305; T-311 and A-365.
Helix	379 – 384

Literature citations

X-linked thrombophilia with a mutant factor IX (factor IX Padua).
Simioni P.; Tormene D.; Tognin G.; Gavasso S.; Bulato C.; Iacobelli N.P.; Finn J.D.; Spiezia L.; Radu C.; Arruda V.R.;
N. Engl. J. Med. 361:1671-1675(2009)
Cited for: VARIANT THPH8 LEU-384; CHARACTERIZATION OF VARIANT THPH8 LEU-384; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Arg384Leu