About Mutations



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1.  Is there a “burden of proof” for inclusion?

All variants in included genes (currently APP, PSEN1, PSEN2, MAPT, TREM2) are eligible for inclusion, whether they were reported in a peer-reviewed publication, a meeting abstract, a review, or by personal communication. 

2.  How do I submit a paper for inclusion into the database?

We would love to hear from you. Please contact us at mutations@alzforum.org.

3.  How do I cite the database?

Please use the following format to cite the database: Mutations Database, Alzforum. http://www.alzforum.org/mutations. Date of Access.

4.  How frequently is the database updated?

The database is updated regularly with new information.

5.  I spotted an error in the database, whom do I contact?

We welcome your feedback. Please contact us at mutations@alzforum.org.

6.  Why do you include nonpathogenic variants?

In many cases, when a rare variant is identified in a disease-associated gene, its significance is unclear. If, however, it has been previously found to be present in (purportedly) healthy individuals, a researcher may use that information in his or her interpretation (for more, see HEX database).

7.  How many pathogenic mutations are there for AD?

For an up-to-date number, please consult the database. We are currently working on a way to make it easier to determine the number of pathogenic variants among the many types of variant listed in the database.

8.  Can I download the database?

If you would like to request an export for research purposes, please contact us at mutations@alzforum.org.

9.  Can I obtain the mutation diagrams in an illustrator format for use in a publication?

We would be happy to provide the AI files for this purpose. Please contact us at mutations@alzforum.org

10.  For the R47H variant, Gueirrero et al. show the nucleotide change as C > T, but you show the change as G > A.  Which is correct?

The human TREM2 gene is on the reverse strand of Chromosome 6. For each TREM2 variant, Alzforum shows the nucleotide change on the reverse strand, in order to match the codon change. However, it is common to report the nucleotide change on the forward strand.

11.  Which reference assembly do you use?

The Alzforum Mutations database uses GRCh37 as the reference genome assembly.

12.  Does the database include variants that do not naturally occur but that have been artificially introduced to study protein function?

Variants introduced artificially into disease models, but which do not occur naturally, are beyond the scope of this database.