Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q76LX8: Variant p.Arg193Trp

A disintegrin and metalloproteinase with thrombospondin motifs 13
Gene: ADAMTS13
Feedback?
Variant information Variant position: help 193 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 Arginine (R) to Tryptophan (W) at position 193 (R193W, p.Arg193Trp). 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 (R) to large size and aromatic (W) 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
Variant description: help In TTP; low activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1427 The length of the canonical sequence.
Location on the sequence: help DLVLYITRFDLELPDGNRQV R GVTQLGGACSPTWSCLITED 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DLVLYITRFDLELPDGNRQVRGVTQLGGACSPTWSCLITED

Mouse                         DLILYITRFDLELPDGNQQVRGVTQLGGACSLSWSCLITED
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 75 – 1427 A disintegrin and metalloproteinase with thrombospondin motifs 13
Domain 80 – 286 Peptidase M12B
Binding site 173 – 173
Binding site 182 – 182
Binding site 184 – 184
Binding site 187 – 187
Binding site 212 – 212
Disulfide bond 155 – 208
Alternative sequence 2 – 329 Missing. In isoform 4.
Mutagenesis 173 – 173 D -> A. No change in calcium dependence for proteolysis.
Mutagenesis 184 – 184 E -> A. Dramatically reduced affinity for calcium.
Mutagenesis 187 – 187 D -> A. Dramatically reduced affinity for calcium.
Mutagenesis 212 – 212 E -> A. Dramatically reduced affinity for calcium.



Literature citations
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.
Matsumoto M.; Kokame K.; Soejima K.; Miura M.; Hayashi S.; Fujii Y.; Iwai A.; Ito E.; Tsuji Y.; Takeda-Shitaka M.; Iwadate M.; Umeyama H.; Yagi H.; Ishizashi H.; Banno F.; Nakagaki T.; Miyata T.; Fujimura Y.;
Blood 103:1305-1310(2004)
Cited for: VARIANTS TTP TRP-193; PHE-673; TYR-908 AND CYS-1123; VARIANT GLU-448; CHARACTERIZATION OF VARIANTS TTP TRP-193; PHE-673; TYR-908 AND CYS-1123; Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
Fujimura Y.; Matsumoto M.; Kokame K.; Isonishi A.; Soejima K.; Akiyama N.; Tomiyama J.; Natori K.; Kuranishi Y.; Imamura Y.; Inoue N.; Higasa S.; Seike M.; Kozuka T.; Hara M.; Wada H.; Murata M.; Ikeda Y.; Miyata T.; George J.N.;
Br. J. Haematol. 144:742-754(2009)
Cited for: VARIANTS TTP THR-178; TRP-193; CYS-304; CYS-349; ASP-525 AND PRO-606; VARIANTS ARG-339; GLU-448 AND ALA-618;
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.