UniProtKB/Swiss-Prot P00740: Variant p.Asn113Lys

Coagulation factor IX
Gene: F9
Chromosomal location: Xq27.1-q27.2
Variant information

Variant position:  113
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Hemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. {ECO:0000269|PubMed:10094553, ECO:0000269|PubMed:10698280, ECO:0000269|PubMed:11122099, ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:12604421, ECO:0000269|PubMed:1346975, ECO:0000269|PubMed:1615485, ECO:0000269|PubMed:1902289, ECO:0000269|PubMed:1958666, ECO:0000269|PubMed:2162822, ECO:0000269|PubMed:2339358, ECO:0000269|PubMed:2372509, ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:25251685, ECO:0000269|PubMed:25470321, ECO:0000269|PubMed:2592373, ECO:0000269|PubMed:2713493, ECO:0000269|PubMed:2714791, ECO:0000269|PubMed:2738071, ECO:0000269|PubMed:2753873, ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:2775660, ECO:0000269|PubMed:3009023, ECO:0000269|PubMed:3243764, ECO:0000269|PubMed:3401602, ECO:0000269|PubMed:3790720, ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:7981722, ECO:0000269|PubMed:8076946, ECO:0000269|PubMed:8199596, ECO:0000269|PubMed:8257988, ECO:0000269|PubMed:8295821, ECO:0000269|PubMed:8680410, ECO:0000269|PubMed:9169594, ECO:0000269|PubMed:9222764, ECO:0000269|PubMed:9452115, ECO:0000269|PubMed:9590153, ECO:0000269|PubMed:9600455}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In HEMB; mild.
Any additional useful information about the variant.



Sequence information

Variant position:  113
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:   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: 
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:  
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
Metal binding 93 – 93 Calcium 7
Metal binding 94 – 94 Calcium 7; via carbonyl oxygen
Metal binding 96 – 96 Calcium 7
Metal binding 110 – 110 Calcium 7
Metal binding 111 – 111 Calcium 7; via carbonyl oxygen
Modified residue 110 – 110 (3R)-3-hydroxyaspartate
Modified residue 114 – 114 Phosphoserine
Glycosylation 99 – 99 O-linked (Glc...) serine; alternate
Glycosylation 99 – 99 O-linked (Xyl...) serine; alternate
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.