Identification of Novel Missense Mutations of Cardiac Ryanodine Receptor Gene in Exercise-Induced Sudden Death at Autopsy Wendy Creighton, Renu Virmani,

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Identification of Novel Missense Mutations of Cardiac Ryanodine Receptor Gene in Exercise-Induced Sudden Death at Autopsy Wendy Creighton, Renu Virmani, Robert Kutys, Allen Burke The Journal of Molecular Diagnostics Volume 8, Issue 1, Pages 62-67 (February 2006) DOI: 10.2353/jmoldx.2006.050081 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 A: A C-to-T substitution at nucleotide position 7113 in exon 46 of RYR2 gene results in a Phe2331-to-Ser (F2331S) in the 8-year-old male. Residue F2331 is highly conserved in different species of three types of RyR2. B: A G-to-T transversion in exon 47 of RyR2 gene was identified in the 12-year-old male who died while running. It resulted in an Arg2401-to-Leu (R2401L) missense mutation. C: DNA sequence analysis reveals a T-to-C substitution in exon 14, converting arginine to cysteine at amino acid 414 in the 16-year-old female who died while swimming competitively. The Journal of Molecular Diagnostics 2006 8, 62-67DOI: (10.2353/jmoldx.2006.050081) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Protein sequence alignments of the victims' protein segments with the corresponding segments in some of their homologues. The sequences were selected using a BLAST (NCBI BLAST) search of the victims' RyR2 protein sequences translated from the victims' RyR2 DNA sequences. Each top sequence is the mutated RyR2 protein segment from the victim, and the bar with boldface indicates the mutated position. A: F2331S mutation identified in the 8-year-old boy (F2331S mutation RyR2). Residue F2331 is highly conserved in different species of three types of RyRs. B: The R2401L mutation and its alignments. R2401 is highly conserved in all RyRs, even in fish RyR1. C: R414C missense mutation detected in the 16-year-old female. R414 is conserved in human, mouse, or rabbit RyR2 but not in horse RyR1 or in human or chicken RyR3 (data not shown). Protein sequence identifiers are listed on the right sides of protein sequences. The Journal of Molecular Diagnostics 2006 8, 62-67DOI: (10.2353/jmoldx.2006.050081) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions