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Figure 4 | BMC Medical Genetics

Figure 4

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

Figure 4

a) Melting curves of exon 3 of the MYL2 gene (NM_000432). 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 3 of the MYL2 gene in patient 35. d) Polyphen analysis of p.Ile44Met genetic variation http://genetics.bwh.harvard.edu/pph2/. e) Conservation across species of codon 44 of the regulatory myosin light chain protein (source: http://www.uniprot.org/). The box shows the amino acid changed by the MYL2 c.132 T > G mutation. [HUMAN - Homo sapiens; MOUSE - Mus musculus; RAT - Rattus norvegicus; BOVIN - Bos Taurus; RABIT - Oryctolagus cunic].

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