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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Arg384Leu

Coagulation factor IX
Gene: F9
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Variant information Variant position: help 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help -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: help In THPH8; factor IX Padua; higher specific activity than wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 461 The length of the canonical sequence.
Location on the sequence: help 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: help 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: help 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 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;
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.