Basic Search
- Mutations can be retrieved by codon number, where codons are numbered with respect to the mature protein - with codon 1 representing the first residue (Glu) after the signal peptide.
- Mutations spanning each domain can also be retrieved.
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For more complex queries, for example to retrieve
mutations over a range of domains and by phenotypic information;
- There are currently 192 disease causing mutations in the FXI gene compiled within this database corresponding to 487 FXI deficient patients reported in literature.