Figure 1 .A) Normalized plots for exon exons 6. The arrow of the
mutated curve C> G, c. 629, differs from that of
non-mutated specimens. Figure B. Differentiating plots for variation of
exon 6.
Figure. 2 (A) Results of the sequencing of nucleotide changes
in exon 2 where the mutation c.44 T> A results in a change
in the amino acid L15Q B) Results of the sequencing of nucleotide
changes in exon 4, which mutations c.331 G> T lead to
change The amino acid is D111Y. C) Results of the sequencing of
nucleotide changes in exon 6 where mutation c.629C> G leads
to alteration of amino acid A210G.
Figure 3. The pathogenic potential of the TBX5 gene variants by
PolyPhen-2. A) Mutation A210G is predicted to be possibly damaging B)
Mutation D111Y is predicted to be probably damaging and C) Mutation L15Q
is predicted to be benign.
Figure 4. A) Interatomic interactions of the A210G mutant. B)
Interatomic interactions of the D111Y mutant. Wild type and mutant are
colored in light green and black arrow also represented as
sticks alongside the surrounding residues, which are involved on any
type of interactions. C) Color definition for bond type.