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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Ile344Leu

Coagulation factor IX
Gene: F9
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Variant information Variant position: help 344 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 Isoleucine (I) to Leucine (L) at position 344 (I344L, p.Ile344Leu). 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 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: 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 HEMB. Any additional useful information about the variant.


Sequence information Variant position: help 344 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 PLVLNSYVTPICIADKEYTN I FLKFGSGYVSGWGRVFHKGR 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                         PLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGR

                              PLTLNSYVTPICIADREYSNIFLKFGSGYVSGWGRVFNKGR

Chimpanzee                    PLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGR

Mouse                         PLILNSYVTPICVANREYTNIFLKFGSGYVSGWGKVFNKGR

Rat                           PLILNSYVTPICVANKEYTNIFLKFGSGYVSGWGKVFNKGR

Bovine                        PLELNSYVTPICIADRDYTNIFLKFGYGYVSGWGKVFNRGR

Cat                           PLTLNSYVTPICVADREYTNTFLKFGYGYVSGWGKVFNKGR

Chicken                       PLTFNSYVTPICIGSRDFTNNLLSNGPGTVSGWGSMLYRGR
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
Helix 339 – 347



Literature citations
Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.
Espinos C.; Casana P.; Haya S.; Cid A.R.; Aznar J.A.;
Haematologica 88:235-236(2003)
Cited for: VARIANTS HEMB TRP-43; ARG-84; ARG-125; VAL-125; PHE-170; ARG-302; MET-342; LEU-344; LEU-395; THR-414; TYR-435; GLU-442 AND TRP-449;
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.