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 implies that there is a small portion of the mutations coded in the mutation databases are not fully compliant with the HGVS nomenclature.
Some of the current mutation databases do not systematically provide information on clinical features, familial history, and so on, whereas others are maintained by the goodwill of the researchers themselves, and consequently, are often incomplete or not up to date.
This implies that there is a small portion of the mutations coded in the mutation databases that are not fully compliant with the HGVS nomenclature.
Although it was reported in Human Gene Mutation Database (HGMD) [ 29], it was not predicted as pathogenic with SIFT, Polyphen2 and MutationTaster tools.
Several novel mutations, not previously reported in the IARC TP53 mutation database in ovarian cancer, were determined.
Furthermore, four of the six single-point substitutions/small deletions are novel mutations, not previously described in the ICG-HNPCC mutation database (http://www.nfdht.nl).nl
This indicates that the single nucleotide mutations, observed here and reported in the TP53 mutation database [13], might really correspond to the background genetic noise, and not be specifically correlated to tumour formation.
Sandgren, A. et al. Tuberculosis drug resistance mutation database.
First, we detect possible deleterious mutations in an individual based on pathogenic mutation database from MITOMAP.
HGMD, Human Gene Mutation Database.
