GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
KCNE1/IsK Jervell and Lange-Nielson Syndrome T7I 20C>T exon 3 Lebanese (1) Schulze-Bahr 1997
  (Homozygous or compound heterozygous) V47F 139G>T exon 3 N/A (1) Bianchi 1999
    L51H 151TG>AT exon 3 N/A (1) Bianchi 1999
    T59P, L60P 172A>C, 176TG>CT exon 3 British (1) Tyson 1997
    D76N 226G>A exon 3 Lebanese (1); North American (1) Schulze-Bahr 1997; Duggal 1998
             
  Long QT Syndrome R32H 95G>A exon 3 N. American/European Splawski 2000
  (Heterozygous) S74L 221C>T exon 3 N/A (1) Splawski 1997
    D76N 226G>A exon 3 N/A (1); N. American (1) Splawski 1997; Duggal 1998
    W87R 259T>C exon 3 N/A (1) Bianchi 1999
    R98W 292C>T exon 3 N. American/European (1) Splawski 2000
    V109I 325G>A exon 3 White (1) Schulze-Bahr 2001*
    *Mild form        
    P127T 379C>A exon 3 N. American/European (1) Splawski 2000