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UniProtKB/Swiss-Prot P00740: Variant p.Leu20Ser

Coagulation factor IX
Gene: F9
Variant information

Variant position:  20
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Serine (S) at position 20 (L20S, p.Leu20Ser).
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 (L) to small size and polar (S)
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; unknown pathological significance; decreased protein abundance; decreased function in blood coagulation.
Any additional useful information about the variant.



Sequence information

Variant position:  20
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:   MQRVNMIMAESPGLITICL  L GYLLSAECTVFLDHENANKI
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                         MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKI

                              -------MAEASGLVTVCLLGYLLSAECAVFLDRENATKI

Chimpanzee                    MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKI

Mouse                         MKHLNTVMAESPALITIFLLGYLLSTECAVFLDRENATKI

Rat                           -------MADAPGLIPIFLLGYLLSTECAVFLDRENATKI

Bovine                        MWCLNMIMAESPGLVTICLLGYLLSAECTVFLDRENATKI

Cat                           MRCLNMIMAEPPGLITICLLGYLLGADCTVFLDHEDATKV

Chicken                       -------MAKIPLILSFCLLEAFLGAESTVFIENKEASTV

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
Signal peptide 1 – 28


Literature citations

Posttranslational modifications of recombinant myotube-synthesized human factor IX.
Arruda V.R.; Hagstrom J.N.; Deitch J.; Heiman-Patterson T.; Camire R.M.; Chu K.; Fields P.A.; Herzog R.W.; Couto L.B.; Larson P.J.; High K.A.;
Blood 97:130-138(2001)
Cited for: SULFATION AT TYR-201; PHOSPHORYLATION AT SER-204;

Identification of protein O-glycosylation site and corresponding glycans using liquid chromatography-tandem mass spectrometry via mapping accurate mass and retention time shift.
Huang L.J.; Lin J.H.; Tsai J.H.; Chu Y.Y.; Chen Y.W.; Chen S.L.; Chen S.H.;
J. Chromatogr. A 1371:136-145(2014)
Cited for: GLYCOSYLATION AT THR-85; SER-99; SER-107; THR-205; THR-215 AND THR-225; PHOSPHORYLATION AT SER-204 AND THR-205; IDENTIFICATION BY MASS SPECTROMETRY;

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.