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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04070: Variant p.Ser294Asn

Vitamin K-dependent protein C
Gene: PROC
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Variant information Variant position: help 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Serine (S) to Asparagine (N) at position 294 (S294N, p.Ser294Asn). 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 small size and polar (S) to medium size and polar (N) 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 Paris; low anticoagulant activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 294 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 EKWELDLDIKEVFVHPNYSK S TTDNDIALLHLAQPATLSQT 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.
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 43 – 461 Vitamin K-dependent protein C
Chain 200 – 461 Vitamin K-dependent protein C heavy chain
Domain 212 – 450 Peptidase S1
Active site 299 – 299 Charge relay system
Glycosylation 290 – 290 N-linked (GlcNAc...) asparagine
Disulfide bond 183 – 319 Interchain (between light and heavy chains)
Turn 293 – 295



Literature citations
Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.
Gandrille S.; Alhenc-Gelas M.; Gaussem P.; Aillaud M.-F.; Dupuy E.; Juhan-Vague I.; Aiach M.;
Blood 82:159-168(1993)
Cited for: VARIANTS TRP-38; CYS-42; HIS-42; GLN-271 AND ASN-294;
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.