L15Q mutation
The novel mutation Lue15Gln, reported for the first time in this study,
is located in the exon 2 of the TBX5 gene. It is a missense mutation
that replaced the leucine as nonpolar amino acid at the end of the N
protein TBX5 and out of the T-box motif, with a glutamine amino acid.
Although the Lue15Gln mutation occurred outside of the T-box, structural
stability prediction of this mutation showed it causes protein
instability. On the other hand, although the PolyPhen-2 analysis
predicted this mutation is benign, it does reduce the stability of the
protein and is found with ASD and PS in this study (Table 3). TBX5
protein crystal structures deposited in the Protein Data Bank are
incomplete for the first 36 residues, therefore information for L15Q
from PDB and PDBJ is unavailable.