Research article
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
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* Corresponding author: Jürgen Kohlhase jkohlhase@humangenetik-freiburg.de
- † Equal contributors
1 Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany
2 Institut für Humangenetik, Medizinische Fakultät der Universität Leipzig, Leipzig, Germany
3 Department of Clinical Genetics, Sahlgrenska University Hospital/East, Göteborg, Sweden
4 Pediatric and Adolescent Medical Care, Skaraborg Hospital, Skovde, Sweden
5 Praxis für Humangenetik, Freiburg, Germany
BMC Medical Genetics 2008, 9:88 doi:10.1186/1471-2350-9-88
Published: 1 October 2008Additional files
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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