The FH HUS mutation database is available at the following URL http://www.FH HUS.org.
The Human Gene Mutation Database was also used to determine whether variants were novel or already associated with a phenotype.
The PD Mutation Database was set up in 2010 [Nuytemans et al., 2010], essentially in response to the lack of comprehensive LSDBs of PD genes.
A novel heterozygous COL3A1 variant (IVS9-7T > C) not found in dbSNP or the COL3A1 locus specific mutation database was also identified.
The European MH Group EMHGG) RYR1 mutation database is not up-to-date and lacks information on a significant number of more recently identified variants or further knowledge on variants already in the database.
This nucleotide change was not previously reported in any single-nucleotide polymorphism or mutation database, was absent in 70 control alleles and also absent in genomic DNA from both parents, indicating a de novo mutation.
Phylogenetic analysis of our blaTEM variants and their evolutionary relationship with those reported in Lahey's mutation database was derived by maximum likelihood method using MEGA software version 5 [ 14].
The AD&FTLD Mutation Database is a locus-specific database (LSDB) that was conceived in 1998 [Cruts and Van Broeckhoven, 1998b] in the perspective of the Mutation Database Initiative [Cotton et al., 1998], an initiative originally fostered by the Human Genome Organization (www.hugo-international.org) that has through the years evolved to the Human Genome Variation Society (HGVS, www.hgvs.org).hgvs.org
The AD&FTLD Mutation Database was designed to hold dominant, heterozygous mutations only, preventing the allocation of multiple variations to one family, for example, recessive mutations such as the homozygous APP p.Ala673Val mutation affecting Aβ amyloidogenesis [Di Fede et al., 2009].
Additionally, Bell et al. (2011) showed that 25%% of variants, described as causal in mutation databases, were low frequency polymorphisms and not causal, highlighting the need to assess candidate variants further, gathering additional evidence for likely causality.
