Figure 3. Analysis of the splice mutaion
in intron 17.
A: The alignment of the FBN1 sequence with the
corresponding segments in diverse species is displayed. The nucleotide
G is conserved in FBN1 proteins from several species. The sequence was
selected by
UCSC Genome Browser.
Note that
FBN1 is located at the minus strand, and the
nucleotide sequence of this genomic region is represented by the plus
strand. The 'Mammal Cons’ is a conservation measurement.
B: The
walker diagram of 3′ (acceptor) splice site in intron 17 and its
adjacent sequence is shown. The wild-type sequence is at the top. Bases
in splice sites are shown in the corresponding walker diagram. The
arrow points to the mutant sequence with the G to T base change and
shows the change from a positive contribution by the G to a near zero
contribution of the T.