2.1 Selection of human missense mutations.
By choosing from the default filter list in ClinVar web pagemissense as molecular consequence , we have made a
preliminary selection of 308,326 entries. Then, we have refined our
selection by applying the clinical significance filter for benign
and pathogenic missense mutations obtaining respectively 25,579 and
22,153 items entries. From pathogenic missense mutations, we excluded
558 entries that were related to more than one mutations, often unlikely
to occur, being associated with double or triple nucleotide changes
between replaced amino acids. Thus, we have considered 21,595 ClinVar
items with single missense mutations, which represent the content of our
pathogenic missense mutation (PMM) data set. In the case of benign
missense mutations, instead, all 25,579 were related to single
mutations, being all these entries controlled with at least one star in
the ClinVar nomenclature. Thus, all the 25,579 benign missense mutation
(BMM) are single mutations entries and form the BMM data set.