GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
KCNQ1 (KvLQT1) Jervell and Lange-Nielson Syndrome FS150 451delCT exon 2 (S2) Amish (1) Chen 1999
      IVS2+1G>A* S2 N/A (1) Splawski 2000
      *Found in Long QT by Splawski 2000    
    Y171X 513C>G exon 3 (S2-S3) N/A (1) Wang 2002
    FS189 567insG exon 3 (S2-S3) Scottish (1) Splawski 1997
    FS191 572delTGCGC* exon 3 (S2-S3) Norwegian (1); Norwegian (7); Norwegian (2) Tyson 1997; Tranebjaerg 1999; Tyson 2000
      *Found in Long QT by Ackerman 1999    
      585del1 exon 3 (S2-S3) N/A (1) Wang 2002
    D202N 604G>A exon 3 (S2-S3) N/A (1) Wang 2002
    R243H 728G>A exon 5 (S4) French (1); British (1) Mohammed-Panah 1999; Tyson 2000
    E261D 783G>A exon 6 (S4-S5) Norwegian (1), Norwegian (1) Tranebjaerg 1999, Tyson 2000
    G269D 806G>A* exon 6 (S5) N/A (1) Wang 2002
      *Found in Long QT by Donger 1997, Splawski 2000  
    G272D 815G>A exon 6 (S5) British (1) Tyson 2000
    W305S 914G>C exon 6 (Pore) N/A (1); Moroccan (2) Chouabe 1997; Neyroud 1998*
      *Heterozygotes were asymptomatic    
    FS337 1008delC exon 7 (S6) British (1) Tyson 2000
    395 1188delC exon 9 (C-term) Haitian (1) Wei 2000
    R518X 1552C>T* exon 12 (C-term) Norwegian (4); N/A (1); Norwegian (3), British (1); Caucasian (1) Tranebjaerg 1999; Splawski 2000; Tyson 2000; Wei 2000
      *Found in Long QT by Larsen 1999b, Splawski 2000  
    Q530X 1588C>T exon 12 (C-term) Norwegian (3); Norwegian (3); N/A (1) Tranebjaerg 1999; Tyson 2000; Splawski 2000
      IVS13-1G>A   British (1) Tyson 2000
      1244del7ins8 exon 13 (C-term) Kabylia (2) Neyroud 1997
    T587M 1760C>T* exon 14 (C-term) N/A (1) Neyroud 1999
      *Found in Long QT by Itoh 1998    
    R594Q 1781G>A* exon 15 (C-term) British (1) Tyson 2000
      *Found in Long QT by Splawski 2000    
      1892del 20 exon 15 (C-term) N/A (1) Neyroud 1999
             
  Long QT Syndrome 71del3 211del9 exon 1 (N-term) N/A (1) Ackerman 1999a, b
    Y111C 332A>G exon 1 (N-term) N/A (1) Splawski 2000
    F157C 470T>G exon 1 (S2) Danish (1) Larsen 1999a
      IVS2+1G>A* S2 N/A (1) Splawski 2000
      *Found in JLNS by Tyson 2000    
      IVS2+5G>A S2 N/A (1) Ackerman 1999
    E160K 478G>A exon 3 (S2) N/A (1) Splawski 2000
    F167W168delG 500delTCG exon 3 (S2) N/A (1) Wang 1996
    G168R 502G>A exon 3 (S2) N/A (3); N/A (3) Splawski 1998, Splawski 2000
    G168R 502G>C exon 3 (S2) French (1) Donger 1997
      504delG exon 3 (S2) Caucasian (1) Wei 2000
    R174C 520C>T exon 3 (S2-S3) French (1) Donger 1997
    R174H 521G>A exon 3 (S2-S3) N/A (1) Splawski 2000
    A178P 532G>C exon 3 (S2-S3) N/A (1) Wang 1996
    A178T 532G>A exon 3 (S2-S3) Japanese (1) Tanaka 1997
    G179S 535G>A exon 3 (S2-S3) N/A (1) Splawski 2000
    Y184S 551A>C exon 3 (S2-S3) Dutch (1); N/A (1) Jongbloed 1999; Splawski 2000
    G189R 565G>A exon 3 (S2-S3) N/A (1); Dutch (2) Wang 1996; Jongbloed 1999
    R190Q 569G>A exon 3 (S2-S3) N/A (1), French (1) Wang 1996; Donger 1997
    FS191 572delTGCGC* exon 3 (S2-S3) N/A (1) Ackerman 1999
      *Found in JLNS by Tyson 1997, Tranebjaerg 1999, Tyson 2000  
    A194P 580G>C exon 3 (S2-S3) N/A (1) Splawski 2000
    S225L 674C>T exon 4 (S4) Italian (1); N/A (1) Priori 1999; Splawski 2000
    D202N     N/A (1) Wang 2002
    D242N 724G>A exon 5 (S4-S5) Japanese (1) Itoh 1998
    R243C 727C>T exon 5 (S4-S5) N/A (1) Splawski 2000
    W248R 742T>C exon 5 (S4-S5) N/A (1) Splawski 2000
    L250H 749T>A exon 5 (S4-S5) Japanese (1) Itoh 1998
    V254M 760G>A exon 5 (S4-S5) N/A (1); French (1); N/A (2) Wang 1996; Donger 1997; Splawski 2000
    E261K 781G>A exon 6 (S4-S5) French (1) Donger 1997
    L266P 797T>C exon 6 (S5) N/A (1) Splawski 2000
    G269S 805G>A exon 6 (S5) N/A (1) Ackerman 1999
    G269D 806G>A* exon 6 (S5) French (1); N/A (2) Donger 1997; Splawski 2000
      *Found in JLNS by Wang 2002    
    L273F 817C>T exon 6 (S5) N/A (1); N/A (1) Wang 1996; Splawski 2000
    Y281C 842T>G exon 6 (S5) Italian (1) Priori 1999
    A300T 898G>A exon 6 (S5/Pore) N/A (1); Italian (1) Priori 1998*; Priori 1999
      *Mutation was recessive      
    G306R 916G>A exon 6 (Pore) N/A (1) Wang 1996
    306 921delGGT exon 6 (Pore) N/A (1) Li 1998
      IVS6+1G>T Pore N/A (1) Splawski 2000
      IVS6-2A>C Pore N/A (1) Splawski 2000
      IVS6-1G>T S6 N/A (1) Murray 1999
    T309I   exon 7 (Pore) Taiwanese (1) Ko 2001
    T309R 926C>G exon 7 (Pore) French (1) Donger 1997
    V310I 928G>A exon 7 (Pore) N/A (1) Splawski 2000
    T311I 932C>T exon 7 (Pore) Finnish (1) Saarinen 1998
    T312I 935C>T exon 7 (Pore) N/A (1); N/A (1) Wang 1996; Splawski 2000
    I313M 939C>G exon 7 (Pore) Japanese (1) Tanaka 1997
    G314S 940G>A exon 7 (Pore) N/A (1); French (2); Japanese (2); N/A (1); Dutch (1) Russell 1996; Donger 1997; Itoh 1998; Splawski 1998; Jongbloed 1999
    Y315C 944A>G exon 7 (Pore) N/A (1); Italian (1) Splawski 1998; Priori 1999
    Y315S 944A>C exon 7 (Pore) French (2); Jongbloed (1) Donger 1997
    D317N 949G>A exon 7 (Pore) German (1); Finnish (1) Wollnik 1997; Saarinen 1998
    K318N 954G>C exon 7 (Pore) N/A (1) Splawski 1998
    P320A 958C>G exon 7 (Pore) French (1) Donger 1997
    G325R 973G>A exon 7 (S6) Japanese (1); French (1); N/A (2) Tanaka 1997; Donger 1997; Splawski 2000
    340delF 1017delCTT exon 7 (S6) N/A (1); N/A (1) Ackerman 1998a; Splawski 2000
    A341E 1022C>A exon 7 (S6) N/A (2); N/A (1); N/A (2) Wang 1996; Berthet 1999*; Splawski 2000
      *Patients also had mutations in HERG    
    A341V 1022C>T exon 7 (S6) N/A (5); N/A (2); French (1); Japanese (1), White (1); N/A (?) Wang 1996; Russell 1996; Donger 1997; Li 1998; Splawski 2000
    L342F 1024C>T exon 7 (S6) French (1) Donger 1997
    A344V 1031C>T exon 7 (S6) French (1) Donger 1997
    G345R 1033G>C exon 7 (S6) Dutch (1) van den Berg 1997
    G345E 1034G>A exon 7 (S6) N/A (1) Wang 1996
    S349W 1046C>G exon 7 (S6) N/A (1) Splawski 2000
    L353P 1058T>C exon 7 (S6) N/A (1) Splawski 1998
      IVS7-1G>A S6 Italian (1), Irish (1), American (2); N/A (1); French (2); N/A (1); N/A (1) Li 1998; Kanters 1998; Murray 1999; Ackerman 1999; Splawski 2000
      IVS7-1G>C S6 N/A (1) Murray 1999
    Q356X 1066C>T exon 8 (C-term) N/A (1) Splawski 2000
    R366W 1096C>T exon 8 (C-term) N/A (1); Danish (1) Splawski 1998; Larsen 1997a
    R366Q 1097G>A exon 8 (C-term) N/A (1) Splawski 2000
    R366P 1097G>C exon 8 (C-term) Japanese (1) Tanaka 1997
    A371T 1111G>A exon 8 (C-term) French (1) Donger 1997
    S373P 1117T>C exon 8 (C-term) Dutch (1) Jongbloed 1999
    T391I 1172C>T exon 9 (C-term) N/A (1) Splawski 2000
    W392R 1174T>C exon 9 (C-term) Dutch (1) Jongbloed 1999
      1343delC exon 10 (C-term) N/A (1) Neyroud 1999
    P448R 1343C>G exon 10 (C-term) N/A (2); American (1) Splawski 2000; Yang 2002*
      *Identified as a polymorphism      
      ~Variant has been found in 22%-28% of asymptomatic Japanese subjects - M. Horie, W. Shimizu
    R518X 1552C>T* exon 12 (C-term) Swedish (1), N/A (2) Larsen 1999b, Splawski 2000
      *Found in JLNS byTranebjaerg 1999, Splawski 2000, Tyson 2000, Wei 2000
    A525T 1573G>A exon 12 (C-term) Swedish (1) Larsen 1999b
    Q530X 1558C>T exon 12 (C-term) N/A (1) Splawski 2000
    R539W 1615C>T exon 13 (C-term) N/A ??
    R555C 1663C>T exon 13 (C-term) French (1) Donger 1997
    S566F 1697C>T exon 14 (C-term) N/A (3) Splawski 2000
    R583C 1747C>T exon 15 (C-term) N/A (1), American (1) Splawski 2000, Yang 2002
    T587M 1760C>T* exon 15 (C-term) Japanese (1) Itoh 1998
      *Found in JLNS by Neyroud 1999    
    R591H 1772G>A exon 15 (C-term) N/A (1) Neyroud 1999
    R594Q 1781G>A* exon 15 (C-term) N/A (1) Splawski 2000
      *Found in JLNS by Tyson 2000    
    FS631 1893insC exon 16 (C-term) N/A (1) Neyroud 1999