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UniProtKB/Swiss-Prot P00740: Variant p.Pro414Thr

Coagulation factor IX
Gene: F9
Variant information

Variant position:  414
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 Proline (P) to Threonine (T) at position 414 (P414T, p.Pro414Thr).
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 medium size and hydrophobic (P) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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; Bergamo; increased protein abundance; loss of function in blood coagulation.
Any additional useful information about the variant.

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



Sequence information

Variant position:  414
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:   MFCAGFHEGGRDSCQGDSGG  P HVTEVEGTSFLTGIISWGEE
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                         MFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEE

                              MFCAGFHEGGKDSCQGDSGGPHVTEVEGISFLTGIISWGEE

Chimpanzee                    MFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEE

Mouse                         MFCAGYREGGKDSCEGDSGGPHVTEVEGTSFLTGIISWGEE

Rat                           MFCAGYREGGKDSCEGDSGGPHVTEVEGTSFLTGIISWGEE

Bovine                        MFCAGYHEGGKDSCQGDSGGPHVTEVEGTSFLTGIISWGEE

Cat                           MFCAGFHEGGKDSCQGDSGGPHVTEVEGINFLTGIISWGEE

Chicken                       MFCAGYTAGGKDTCGGDSGGPYTNSIGETWFLTGVTSWGEE

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 411 – 411 Charge relay system
Disulfide bond 407 – 435
Beta strand 414 – 419


Literature citations

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
Bertina R.M.; van der Linden I.K.; Mannucci P.M.; Reinalda-Poot H.H.; Cupers R.; Poort S.R.; Reitsma P.H.;
J. Biol. Chem. 265:10876-10883(1990)
Cited for: VARIANTS HEMB GLN-226; TRP-226; PHE-227 AND THR-414;

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;

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
Guo Z.P.; Yang L.H.; Qin X.Y.; Liu X.E.; Chen J.F.; Zhang Y.F.;
Haemophilia 20:859-865(2014)
Cited for: VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS; CHARACTERIZATION OF VARIANTS HEMB SER-20; TYR-28; SER-46; ASP-54; GLU-58; ARG-84; HIS-138; GLN-226; ILE-284 DEL; MET-296; LYS-328; TYR-328; THR-414 AND TYR-THR-LYS-VAL-447 INS;

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.