The UMD-FBN1 mutations database
Mutation c.IVS44-2A>C (c.5546-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tcttatttacagAT
90.8 _
tcttatttaccgAT
61.8 _ *
-31.9 %


     Data for this mutation

     Experimental & complementary data: No data available