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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Arg46Ser

Coagulation factor IX
Gene: F9
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Variant information Variant position: help 46 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 Serine (S) at position 46 (R46S, p.Arg46Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HEMB; severe; Cambridge; impaired processing of the propeptide; impaired gamma-carboxylation; decreased protein abundance; loss of function in blood coagulation. Any additional useful information about the variant.


Sequence information Variant position: help 46 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 AECTVFLDHENANKILNRPK R YNSGKLEEFVQGNLERECME 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                         AECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECME

                              AECAVFLDRENATKILSRPKRYNSGKLEEFVRGNLERECIE

Chimpanzee                    AECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECME

Mouse                         TECAVFLDRENATKILTRPKRYNSGKLEEFVRGNLERECIE

Rat                           TECAVFLDRENATKILTRPKRYNSGKLEEFVQGNLERECIE

Bovine                        AECTVFLDRENATKILHRPKRYNSGKLEEFVRGNLERECKE

Cat                           ADCTVFLDHEDATKVLSRPKRYNSGKLEEFVQGNLERECME

Chicken                       AESTVFIENKEASTVLSRTRRGNSNRLEELIPGNLERECIE
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
Propeptide 29 – 46
Binding site 47 – 47
Binding site 48 – 48
Binding site 53 – 53 via 4-carboxyglutamate
Binding site 53 – 53 via 4-carboxyglutamate
Binding site 54 – 54 via 4-carboxyglutamate
Binding site 54 – 54 via 4-carboxyglutamate
Binding site 61 – 61 via 4-carboxyglutamate
Binding site 61 – 61 via 4-carboxyglutamate
Binding site 63 – 63 via 4-carboxyglutamate
Binding site 63 – 63 via 4-carboxyglutamate
Binding site 63 – 63 via 4-carboxyglutamate
Binding site 66 – 66 via 4-carboxyglutamate
Binding site 66 – 66 via 4-carboxyglutamate
Modified residue 53 – 53 4-carboxyglutamate
Modified residue 54 – 54 4-carboxyglutamate
Modified residue 61 – 61 4-carboxyglutamate
Modified residue 63 – 63 4-carboxyglutamate
Modified residue 66 – 66 4-carboxyglutamate



Literature citations
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.