Variant position: 232 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:
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 EDTGFDLGVTIAHEIGHSFG LEHDGAPGSG--CGPSGHVMASD
Mouse EDTGFDLGVTIAHEIGHSFG LDHDGAPGSGSTCKASGHVMA
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
75 – 1427 A disintegrin and metalloproteinase with thrombospondin motifs 13
80 – 286 Peptidase M12B
225 – 225
212 – 212 Calcium; high affinity
224 – 224 Zinc; catalytic
228 – 228 Zinc; catalytic
234 – 234 Zinc; catalytic
202 – 281
2 – 329 Missing. In isoform 4.
212 – 212 E -> A. Dramatically reduced affinity for calcium.
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
Schneppenheim R.; Budde U.; Oyen F.; Angerhaus D.; Aumann V.; Drewke E.; Hassenpflug W.; Haberle J.; Kentouche K.; Kohne E.; Kurnik K.; Mueller-Wiefel D.; Obser T.; Santer R.; Sykora K.W.;
Cited for: VARIANTS TTP GLN-232; CYS-263 AND LEU-353;
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.