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Figure 1 Distribution of mutations and amino acid polymorphisms in TNNI3 identified in the present study. The initial 280 patients with hypertrophic cardiomyopathy underwent mutation analysis in all protein-encoding exons of TNNI3 whereas the remaining 468 were investigated in exons 5, 7, and 8 only. Novel mutations are in italics. Exons are indicated by boxes, and interaction sites with other thin filament proteins are indicated with different patterns. Dotted patterns = troponin T-binding domain, residue 61 to 112; small slash pattern = troponin C-binding domain, residue, 113 to 164; large slash pattern = actin-binding domain, residue 130 to 148; 173 to 181.
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