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Table I.

LQT-associated mutants in the IAD

Nucleotide Amino acid Mutation type Region Phenotype Reference 
G604C D202H Missense S3  Napolitano et al., 2005  
G604A D202N Missense S3 RWS Yamaguchi et al., 2003  
A610T I204F Missense S3 RWS Tester et al., 2005  
C612G I204M Missense S3  Napolitano et al., 2005  
C626T S209F Missense S3  Napolitano et al., 2005  
G643A V215M Missense S3  Napolitano et al., 2005  
Nucleotide Amino acid Mutation type Region Phenotype Reference 
G604C D202H Missense S3  Napolitano et al., 2005  
G604A D202N Missense S3 RWS Yamaguchi et al., 2003  
A610T I204F Missense S3 RWS Tester et al., 2005  
C612G I204M Missense S3  Napolitano et al., 2005  
C626T S209F Missense S3  Napolitano et al., 2005  
G643A V215M Missense S3  Napolitano et al., 2005  

Amino acid numbering is based on Gene Bank cDNA:AF000571 and nucleotide numbering starts from ATG. RWS, Romano-Ward syndrome.

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