Last update 8/11/22 |
| This database includes
72
references
and
343
mutations (66 different mutations and 48 proteic variants) |
This database provides up-to-date information about variations of the SLC40A1 gene. It aims to make the information easily accessible to anyone interested in the ferroportin disease (FD) or hemochromatosis type 4 (HC4), and to provide an easy way to report new variants and associated iron overload phenotypes Note that the database only contains variants reported at the DNA sequence level (with the exception of 5'UTR and 3'UTR sequences), and protein sequence level when applicable. Note that the database excludes patients and relatives for whom phenotypic information is not provided in literature or incomplete. Please look at “the gene”, “the protein”, and “the clinics” buttons (left panel). Use the “Mutations” button to get information about a particular variation. The “references” button allows the selection of references included in the UMD-SLC40A1 database. |
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Your team's mutations are not in this database and you want to include them? You are invited to provide nomenclature of the variant (as recommended by the Human Genome Variation Society (Human Genome Variation Society), together with detailed biological and clinical data using the UMD-SLC40A1 Data Submission form. Data about relatives, when available, are also mandatory. After verification the mutation will be added in the database. |
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To contact us
Pr. Gérald LE GAC: gerald.legac@univ-brest.fr |
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Copyright:
The UMD-SLC40A1 Locus Specific Databases constitute the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation. |