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Figure 1 | BMC Medical Genetics

Figure 1

From: High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians

Figure 1

(A - F). Sequence electropherograms of TNNI3 gene . Upper panel representing the control sequences, whereas the lower panel showing the mutations observed in the HCM patients. The mutations sites are shown with arrows. A. Novel missense heterozygous mutation at the nucleotide position g.4019 (G > A) that changes the amino acid Arginine (CGA) to Glutamine (CAA) at the residue 98. B. A heterozygous mutation at the nucleotide position g.4682 (G > A) that changes the amino acid Arginine (CGG) to Glutamine (CAG) at residue 141. C. A heterozygous mutation at the nucleotide position g.4745 (G > A) that changes the amino acid Arginine (CGG) to Glutamine (CAG) at residue 162. D. A novel homozygous splice acceptor site SNP at the nucleotide position g.2653 (AA) in intron 5. E. A novel homozygous SNP at the nucleotide position g.4003 (TT) in Intron 6. F. A heterozygous silent mutation (E179E), at the nucleotide position g.4797 (G > A) in exon 7.

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BMC Medical Genetics

ISSN: 1471-2350

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