Additional file 1.

The c.1333delC mutation results in an elongated protein. The heterozygous c.1333delC mutation (yellow) in exon 9 of TBX5 results in a translational frameshift creating an elongated TBX5 protein due to a downstream shift of the termination codon. The mutant TBX5 protein contains 74 miscoding amino acids and 62 supernumerary C-terminal amino acids (black letters).

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Böhm et al. BMC Medical Genetics 2008 9:88   doi:10.1186/1471-2350-9-88