Sequence information
Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1427 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DLVLYITRFDLELPDGNRQVR GVTQLGGACSPTWSCLITED
Mouse DLILYITRFDLELPDGNQQVR GVTQLGGACSLSWSCLITED
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
75 – 1427
A disintegrin and metalloproteinase with thrombospondin motifs 13
Domain
80 – 286
Peptidase M12B
Metal binding
173 – 173
Calcium
Metal binding
182 – 182
Calcium; high affinity
Metal binding
184 – 184
Calcium; high affinity
Metal binding
187 – 187
Calcium; high affinity
Metal binding
212 – 212
Calcium; high affinity
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.