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Figure 2 | BMC Medical Genetics

Figure 2

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

Figure 2

a) Melting curves of exon 2 of the MYH6 gene (NM_002471). b) Difference plot of the melting curves. The arrows in both figures indicate the wild-type (wt) profile and the patient respective variation. Seven healthy control individuals were used has a reference curve. c) Chromatogram analysis resulting from sequencing exon 2 of the MYH6 gene in patient 37. d) Polyphen analysis of p.Gly56Arg genetic variation http://genetics.bwh.harvard.edu/pph2/. e) Conservation across species of codon 56 of the α-myosin light chain protein (source: http://www.uniprot.org/). The box shows the amino acid changed by the MYH6 c.220 G > A mutation. [HUMAN - Homo sapiens; MOUSE - Mus musculus; RAT - Rattus norvegicus; DANRE - Danio rerio].

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