We maintain websites for genetic variants in the human coagulation factors F5, F7, F8, F9, F10 and F11, as a service for clinicians and researchers. This ADAMTS13 database is updated with 385 variants.

ADAMTS13 variants

Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by variants in the ADAMTS13 gene on chromosome 9, which encodes the metalloprotease ADAMTS13. There are currently 385 unique variants compiled within this database, corresponding to 374 individual patients with linked clinical data.

Browse variants Open variant map Advanced search

Cite us

Paper citation
https://doi.org/10.1182/bloodadvances.2026021926

What can you do in this database?

This website enables users to investigate cTTP variants reported in ADAMTS13. The database includes genetic, protein, clinical and population-level information.

Users can search by nucleotide position, amino-acid position, HGVS name, rsID, variant type, predicted consequence, exon/intron location and ClinVar classification.

For easy navigation across the website, please use the menu above.

ADAMTS13 molecular structure

Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag or use the mouse wheel to zoom in and out. Click a coloured domain button on the left to focus on that region.
AlphaFold Q76LX8 domain-annotated molecular view
Button colour = domain colour

External resources

Please see the external resources below, relevant to ADAMTS13 gene structure, protein annotation, population variation, tissue expression and disease associations.
GeneCardsIntegrated gene summary page covering gene function, aliases, expression, pathways, protein information and external cross-references.Open GeneCards
gnomADPopulation variation resource showing allele counts, allele frequencies and constraint information from large-scale sequencing datasets, including information on ancestry sub-populations.Open gnomAD
EnsemblGenome browser entry for ADAMTS13 with transcript models, exon structure, genomic coordinates, comparative genomics and variant annotations.Open Ensembl
UniProtProtein-focused annotation resource describing ADAMTS13 sequence, domains, function, processing, post-translational features and literature links.Open UniProt
OMIMCatalogue of human genes and genetic disorders, with curated information on ADAMTS13 and inherited disease phenotypes.Open OMIM
GTExTissue expression portal showing where ADAMTS13 is expressed across human tissues.Open GTEx
Open TargetsTarget-disease association platform integrating evidence linking ADAMTS13 to human diseases, traits and therapeutic relevance.Open Open Targets

Simple nucleotide search

Simple amino-acid search

Variant type search

Variant effect search

Exon and intron search

Nomenclature: HGVS & Legacy

The reference sequences used for ADAMTS13 are NC_000009.12 genomic and NM_139027.6 mRNA.

Codons and amino acids are numbered using HGVS nomenclature.

Have you or someone you know been diagnosed with TTP?

The information contained on this web site is provided for scientific research purposes only, and does not constitute medical advice or recommendation on patient management. Below are several links for more information on TTP:

Latest release - Version 1.0

This website is under continual development and improvement. If you find any bugs or have any suggestions please email s.perkins@ucl.ac.uk

The information contained on this web site is provided for research purposes only. All information and content on this web site are protected by copyright. All rights are reserved.