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UniProtKB/Swiss-Prot P08709: Variant p.Asn117Asp

Coagulation factor VII
Gene: F7
Variant information

Variant position:  117
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 Aspartate (D) at position 117 (N117D, p.Asn117Asp).
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 medium size and acidic (D)
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

Involvement in disease:  Factor VII deficiency (FA7D) [MIM:227500]: A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:11091194, ECO:0000269|PubMed:11129332, ECO:0000269|PubMed:12472587, ECO:0000269|PubMed:14717781, ECO:0000269|PubMed:1634227, ECO:0000269|PubMed:18976247, ECO:0000269|PubMed:19432927, ECO:0000269|PubMed:19751712, ECO:0000269|PubMed:2070047, ECO:0000269|PubMed:21206266, ECO:0000269|PubMed:21372693, ECO:0000269|PubMed:26761581, ECO:0000269|PubMed:7974346, ECO:0000269|PubMed:7981691, ECO:0000269|PubMed:8043443, ECO:0000269|PubMed:8204879, ECO:0000269|PubMed:8242057, ECO:0000269|PubMed:8364544, ECO:0000269|PubMed:8652821, ECO:0000269|PubMed:8844208, ECO:0000269|PubMed:8883260, ECO:0000269|PubMed:8940045, ECO:0000269|PubMed:9414278, ECO:0000269|PubMed:9452082, ECO:0000269|PubMed:9576180}. 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 FA7D; exhibits no procoagulant activity and is unable to bind tissue factor.
Any additional useful information about the variant.

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



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  466
The length of the canonical sequence.

Location on the sequence:   TKLFWISYSDGDQCASSPCQ  N GGSCKDQLQSYICFCLPAFE
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                         TKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFE

Chimpanzee                    TKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFE

Mouse                         TKQFWIVYSDGDQCASNPCQNGGTCQDHLKSYVCFCLLDFE

Rat                           TKQFWTIYSDGDQCASNPCQNGGTCQDHLKSYVCFCPLDFE

Bovine                        TRQFWVSYNDGDQCASSPCQNGGSCEDQLRSYICFCPDGFE

Rabbit                        TKQFWITYNDGDQCASNPCQNGGSCEDQIQSYICFCLADFE

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 61 – 212 Factor VII light chain
Domain 106 – 142 EGF-like 1; calcium-binding
Site 113 – 113 Important for S-112 for O-xylosylation
Modified residue 123 – 123 (3R)-3-hydroxyaspartate
Glycosylation 112 – 112 O-linked (Glc...) serine; alternate
Glycosylation 112 – 112 O-linked (Xyl...) serine; alternate
Glycosylation 120 – 120 O-linked (Fuc) serine
Disulfide bond 110 – 121
Disulfide bond 115 – 130
Mutagenesis 112 – 112 S -> A. Complete loss of O-glycosylation and O-xylosylation by POGLUT1.
Mutagenesis 113 – 113 S -> A. No effect on O-glycosylation by POGLUT1. Drastic decrease in O-xylosylation.
Turn 116 – 118


Literature citations

Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.
Leonard B.J.; Chen Q.; Blajchman M.A.; Ofosu F.A.; Sridhara S.; Yang D.; Clarke B.J.;
Blood 91:142-148(1998)
Cited for: VARIANT FA7D ASP-117; CHARACTERIZATION OF VARIANT FA7D ASP-117;

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.