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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Asn113Lys

Coagulation factor IX
Gene: F9
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Variant information Variant position: help 113 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 Asparagine (N) to Lysine (K) at position 113 (N113K, p.Asn113Lys). 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 medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In HEMB; mild. Any additional useful information about the variant.


Sequence information Variant position: help 113 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 DGDQCESNPCLNGGSCKDDI N SYECWCPFGFEGKNCELDVT 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                         DGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVT

                              DGDQCESNPCLNDGVCKDDINSYECWCRAGFEGKNCELDVT

Chimpanzee                    DGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVT

Mouse                         DGDQCESNPCLNGGICKDDISSYECWCQVGFEGRNCELDAT

Rat                           DGDQCESNPCLNGGICKDDINSYECWCQAGFEGRNCELDAT

Bovine                        DGDQCESNPCLNGGMCKDDINSYECWCQAGFEGTNCELDAT

Cat                           DGDQCESNPCLNGGICKDDINSYECWCQTGFEGKNCELDVT

Chicken                       DGDQCNSNPCKNGAVCKDGVSSYECMCPPGYGGRNCEIDST
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 47 – 191 Coagulation factor IXa light chain
Domain 93 – 129 EGF-like 1; calcium-binding
Binding site 93 – 93
Binding site 94 – 94
Binding site 96 – 96
Binding site 110 – 110
Binding site 111 – 111
Modified residue 110 – 110 (3R)-3-hydroxyaspartate
Modified residue 114 – 114 Phosphoserine
Glycosylation 99 – 99 O-linked (Glc...) serine
Glycosylation 107 – 107 O-linked (Fuc...) serine
Disulfide bond 102 – 117
Alternative sequence 93 – 130 Missing. In isoform 2.



Literature citations
Mutations associated with hemophilia B in Turkish patients.
Caglayan S.H.; Goekmen Y.; Aktuglu G.; Guergey A.; Sommer S.S.;
Hum. Mutat. 10:76-79(1997)
Cited for: VARIANTS HEMB LYS-113; MET-342; ARG-413 AND VAL-424;
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.