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Figure 5 | BMC Medical Genetics

Figure 5

From: High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Figure 5

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 patients respective variations. Nine healthy control individuals were used has a reference curve. c) Chromatogram analysis resulting from sequencing exon 14 of the TNNT2 gene in patient 67. d) Polyphen analysis of p.Lys260Arg genetic variation http://genetics.bwh.harvard.edu/pph2/. e) Conservation across species of codon 260 of the cardiac Troponic T protein (source: http://www.uniprot.org/). The box shows the amino acid changed by the TNNT2 c.778A > G mutation. [HUMAN - Homo sapiens; MOUSE - Mus musculus; RAT - Rattus norvegicus; CANFA - Canis familiaris; RABIT - Oryctolagus cunic]. f) Melting curves of the population study of exon 14 of the TNNT2 gene (NM_000364). g) Difference plot of the melting curves. The arrows in both figures indicate the wild-type (wt) profile and the c.778A > G (p.Lys260Arg) variation on two chromosomes of control individuals. 100 healthy control individuals (200 chromosomes) were used has a reference curve.

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