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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07225: Variant p.Lys196Glu

Vitamin K-dependent protein S
Gene: PROS1
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Variant information Variant position: help 196 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 Lysine (K) to Glutamate (E) at position 196 (K196E, p.Lys196Glu). 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 large size and basic (K) to medium size and acidic (E) 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 THPH5; Tokushima; the specific activity decreases to 58% of that of the wild-type PROS1; the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 196 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 DNTPGSYHCSCKNGFVMLSN K KDCKDVDECSLKPSICGTAV 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 157 – 200 EGF-like 2; calcium-binding
Disulfide bond 186 – 199



Literature citations
Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S.
Hayashi T.; Nishioka J.; Shigekiyo T.; Saito S.; Suzuki K.;
Blood 83:683-690(1994)
Cited for: VARIANT THPH5 TOKUSHIMA GLU-196; Four missense mutations identified in the protein S gene of thrombosis patients with protein S deficiency: effects on secretion and anticoagulant activity of protein S.
Tsuda H.; Urata M.; Tsuda T.; Wakiyama M.; Iida H.; Nakahara M.; Kinoshita S.; Hamasaki N.;
Thromb. Res. 105:233-239(2002)
Cited for: VARIANTS THPH5 ARG-95; GLU-196; ILE-630 AND CYS-636; CHARACTERIZATION OF VARIANTS THPH5 ARG-95; GLU-196; ILE-630 AND CYS-636; Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
Okada H.; Takagi A.; Murate T.; Adachi T.; Yamamoto K.; Matsushita T.; Takamatsu J.; Sugita K.; Sugimoto M.; Yoshioka A.; Yamazaki T.; Saito H.; Kojima T.;
Br. J. Haematol. 126:219-225(2004)
Cited for: VARIANTS THPH5 LEU-87; TYR-121; GLU-196; HIS-355 AND LEU-667;
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.