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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Pro76Leu

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 76 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 Proline (P) to Leucine (L) at position 76 (P76L, p.Pro76Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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

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


Sequence information Variant position: help 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 676 The length of the canonical sequence.
Location on the sequence: help RECIEELCNKEEAREVFEND P ETDYFYPKYLVCLRSFQTGL 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 42 – 676 Vitamin K-dependent protein S
Domain 42 – 87 Gla
Modified residue 57 – 57 4-carboxyglutamate
Modified residue 60 – 60 4-carboxyglutamate
Modified residue 61 – 61 4-carboxyglutamate
Modified residue 66 – 66 4-carboxyglutamate
Modified residue 67 – 67 4-carboxyglutamate
Modified residue 70 – 70 4-carboxyglutamate
Modified residue 73 – 73 4-carboxyglutamate
Modified residue 77 – 77 4-carboxyglutamate



Literature citations
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene.
Gandrille S.; Borgel D.; Eschwege-Gufflet V.; Aillaud M.; Dreyfus M.; Matheron C.; Gaussem P.; Abgrall J.F.; Jude B.; Sie P.; Toulon P.; Aiach M.;
Blood 85:130-138(1995)
Cited for: VARIANTS THPH5 LEU-40; HIS-41; ALA-67; CYS-72; MET-78; HIS-90; ASN-144; GLY-245; LYS-249; TRP-265; ARG-265 AND ASN-376; VARIANTS LEU-76 AND VAL-385; Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
Hermida J.; Faioni E.M.; Mannucci P.M.;
Thromb. Haemost. 82:1634-1638(1999)
Cited for: VARIANTS THPH5 ALA-67; GLY-129; PHE-175; PRO-515; LEU-562 AND ASP-638; VARIANTS LEU-76 AND ASP-638; Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Biguzzi E.; Razzari C.; Lane D.A.; Castaman G.; Cappellari A.; Bucciarelli P.; Fontana G.; Margaglione M.; D'Andrea G.; Simmonds R.E.; Rezende S.M.; Preston R.; Prisco D.; Faioni E.M.;
Hum. Mutat. 25:259-269(2005)
Cited for: VARIANTS THPH5 ALA-67; TYR-88; GLY-129; ASN-144; PHE-175; GLY-204; CYS-266; SER-267; ASP-336; ARG-357; PRO-446; PRO-515; ASP-521; LYS-611; ASP-638 AND TYR-639; VARIANTS LEU-76; PRO-501; MET-559; LEU-562 AND HIS-583; CHARACTERIZATION OF VARIANTS PROS1 DEFICIENCY ALA-67; TYR-88; GLY-129; PHE-175; GLY-204; CYS-266; SER-267; ASP-336; ARG-357; PRO-446; PRO-515; ASP-521; LYS-611; ASP-638 AND TYR-639; CHARACTERIZATION OF VARIANTS LEU-76; LEU-562 AND HIS-583;
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.