a) Melting curves of exon 14 of the TNNT2 gene (NM_000364). b) Difference plot of the melting curves. The arrows in both figures indicate the wild-type (wt) profile and the patient respective variation. Eight healthy control individuals were used has a reference curve. c) Chromatogram analysis resulting from sequencing exon 14 of the TNNT2 gene in patient 22. d) Polyphen analysis of p.Lys241Met genetic variation http://genetics.bwh.harvard.edu/pph2/ webcite. e) Conservation across species of codon 241 of the Troponin T protein (source: http://www.uniprot.org/ webcite). The box shows the amino acid changed by the TNNT2 c.722A > T mutation. [HUMAN - Homo sapiens; MOUSE - Mus musculus; RAT - Rattus norvegicus; BOVIN - Bos Taurus; DANRE - Danio rerio].
Santos et al. BMC Medical Genetics 2012 13:17 doi:10.1186/1471-2350-13-17