Sequence information
Variant position: 673 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:
ADIQVYRRYGEEYGNLTRPD
I TFTYFQPKPRQAWVWAAVRG
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 ADIQVYRRYGEEYGNLTRPDI TFTYFQPKPRQAWVWAAVRG
Mouse IEIQVYRRYGGEYGDLTHPDI TFSYFQLKQQAAWVWTAKRG
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
Region
556 – 685
Spacer
Glycosylation
667 – 667
N-linked (GlcNAc...) (complex) asparagine
Alternative sequence
658 – 692
YRRYGEEYGNLTRPDITFTYFQPKPRQAWVWAAVR -> GGVRAQLMHISWWSRPGLGERDLCARGRWPGGSSD. In isoform 4.
Beta strand
673 – 680
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;
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.