UniProtKB/Swiss-Prot P07225: Variant p.Lys196Glu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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: 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: 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: 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: 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: Links to websites of interest for the variant.

• Variant rs121918474 [ dbSNP | Ensembl ]

Sequence information

Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 676 The length of the canonical sequence.
Location on the sequence: 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: 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.

Type	Positions	Description
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;