Figure 3.

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 webcite. e) Conservation across species of codon 241 of the Troponin T protein (source: 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
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