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UniProtKB/Swiss-Prot P00740: Variant p.Ala279Thr

Coagulation factor IX
Gene: F9
Variant information

Variant position:  279
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 Threonine (T) at position 279 (A279T, p.Ala279Thr).
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 polar (T)
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 HEMB; mild.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  279
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:   EKWIVTAAHCVETGVKITVV  A GEHNIEETEHTEQKRNVIRI
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                         EKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRI

                              EKWVVTAAHCIEPDVKITIVAGEHNTEKREHTEQKRNVIRT

Chimpanzee                    EKWIVTAAHCVDTGVKITVVAGEHNIEETEHTEQKRNVIRI

Mouse                         EKWIVTAAHCLKPGDKIEVVAGEYNIDKKEDTEQRRNVIRT

Rat                           EKWIVTAAHCLKPGDKIEVVAGEHNIDEKEDTEQRRNVIRT

Bovine                        EKWVVTAAHCIKPGVKITVVAGEHNTEKPEPTEQKRNVIRA

Cat                           EKWVVTAAHCINPDVEITVVAGEHNTEETEHTEQKRNVIRT

Chicken                       EKWVVTAAHCLEPGDNVTAVAGEYNTKEDDHTEQRRQVVKI

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
Active site 267 – 267 Charge relay system
Metal binding 281 – 281 Calcium 8
Metal binding 283 – 283 Calcium 8; via carbonyl oxygen
Metal binding 286 – 286 Calcium 8; via carbonyl oxygen
Metal binding 288 – 288 Calcium 8
Metal binding 291 – 291 Calcium 8
Disulfide bond 178 – 335 Interchain (between light and heavy chains)
Beta strand 276 – 280


Literature citations

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
Koeberl D.D.; Bottema C.D.; Buerstedde J.-M.; Sommer S.S.;
Am. J. Hum. Genet. 45:448-457(1989)
Cited for: VARIANTS HEMB GLN-75; ASP-79; TRP-268; THR-279; SER-306; MET-342; ARG-357 AND ARG-453; VARIANT PHE-7;

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.
Aguilar-Martinez P.; Romey M.-C.; Schved J.-F.; Gris J.-C.; Demaille J.; Claustres M.;
Hum. Genet. 94:287-290(1994)
Cited for: VARIANTS HEMB HIS-191; GLY-226; THR-279; GLN-379; GLU-419 AND GLN-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.