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UniProtKB/Swiss-Prot P00740: Variant p.Leu383Ile

Coagulation factor IX
Gene: F9
Variant information

Variant position:  383
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 Leucine (L) to Isoleucine (I) at position 383 (L383I, p.Leu383Ile).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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 HEMB.
Any additional useful information about the variant.



Sequence information

Variant position:  383
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:   GRSALVLQYLRVPLVDRATC  L RSTKFTIYNNMFCAGFHEGG
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                         GRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGG

                              GRSASILQYLKVPLVDRATCLRSTKFTIYNNMFCAGFHEGG

Chimpanzee                    GRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGG

Mouse                         GRQASILQYLRVPLVDRATCLRSTTFTIYNNMFCAGYREGG

Rat                           GRQASILQYLRVPLVDRATCLRSTKFSIYNNMFCAGYREGG

Bovine                        GRSASILQYLKVPLVDRATCLRSTKFSIYSHMFCAGYHEGG

Cat                           GRPATILQYLKVPLVDRATCLRSTKFTIYNNMFCAGFHEGG

Chicken                       GRSAIVLQVLTVPFVDRVTCLKSTSTTILHSMFCAGYTAGG

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.

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

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.
Onay U.V.; Kavakli K.; Kilinc Y.; Gurgey A.; Aktuglu G.; Kemahli S.; Ozbek U.; Caglayan S.H.;
Br. J. Haematol. 120:656-659(2003)
Cited for: VARIANTS HEMB TYR-28; LEU-43; GLN-43; SER-52; ASP-106; LYS-124; TYR-134; GLN-226; GLY-226; TRP-226; LYS-241; TYR-252; GLN-294; PHE-316; ARG-318; GLY-379; ILE-383; PHE-383; ILE-395; PHE-396; ARG-407 AND GLU-412;

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.