CpG dinucleotide mutations in antithrombin deficiency

 

RS : Reactive site mutations

HBS : Heparin binding site mutations

PE : Mutations with pleiotropic effects

" Distinct mutations" do not include those repeated mutations which may have arisen independantly

Type I includes point mutations, partial and whole gene deletions

Numbers in brackets include total number of entries in the database for each category

CpG mutations are those involving CG to TG or CA substitution mutations.