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. Author manuscript; available in PMC: 2014 Jun 13.
Published in final edited form as: Nat Commun. 2013;4:1952. doi: 10.1038/ncomms2952

Fig. 7. Missense Mutation in Human STAC3 causes Native American Myopathy (NAM).

Fig. 7

Left top, sequence chromatographs of corresponding exonic region of the STAC3 gene of individuals +/+, +/− and −/− for the NAM locus showing the G>C missense mutation in the stac3 gene. N denotes the G/C heterozygous nucleotide. Right top, pedigree of an individual exhibiting NAM (black) and homozygous for the missense mutation (C/C). Unaffected parents were carriers for the mutation (G/C) and the unaffected sibling was homozygous for the wt nucleotide (G/G). Middle, alignment of the corresponding region of Stac3 containing NAM mutation showing that the missense mutation results in a W>S substitution in NAM individuals and that this W is completely conserved between various mammals and zebrafish. Bottom, diagram showing that the missense mutation in Stac3NAM is located in a SH3 domain.