GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
WFS1 DFNA6/14/38 K634T     Japanese (1) Komatsu 2002
    T699M 2266C>T exon 8 Dutch (1) Bespalova 2001
    A716T 2146G>A exon 8 American/Irish (1), Dutch(1); Canadian (1) Bespalova 2001; Young 2001
    V779M 2505G>A exon 8 US (1) Bespalova 2001
      found in 1/336 controls      
    L829P 2656T>C exon 8 American (1) Bespalova 2001
    G831D 2662G>A exon 8 American (1) Bespalova 2001
            Kunz MBHD 2001
             
  Wolfram Syndrome Q136X 406C>T exon 4 African/Arabic (1) Hardy 1999
      IVS4+1G>A   Turkish (1) Strom 1998
    E169K 505G>A exon 8 English (1) Hardy 1999
    FS199 599delT exon 8 German (2) Strom 1998
    Q226X 676C>T exon 8 German (1) Strom 1998
    E273X 817G>T exon 8 English (2) Hardy 1999
    P292S 874C>T exon 8 English (1) Hardy 1999
    I296S 887T>G exon 8 English (1) Hardy 1999
    Y302X 906C>A exon 8 English (1) Hardy 1999
    354delF 1060delTTC exon 8 English (1) Hardy 1999
    Q366X 1096C>T exon 8 German(1), Turkish (1) Strom 1998
    415delV 1243delGTC exon 8 English (1) Hardy 1999
    G437R 1309G>C exon 8 English (1) Hardy 1999
    459 1380delCACCGAGGT exon 8 Turkish (1) Strom 1998
    W478X 1433G>A exon 8 English (3) Hardy 1999
    483 1610insCTGAAGG exon 8 Palestinian (1) Inoue 1998
    502ins8 1504ins24 exon 8 English (1) Hardy 1999
    P504L 1681C>T exon 8 European (1) Inoue 1998
    508delYVYLL 1685del15 exon 8 Japanese (1) Inoue 1998
    507 1523delAT exon 8 Yugoslavian (1) Strom 1998
    FS517 1549delC exon 8 English (1) Hardy 1999
    Q520X 1558C>T exon 8 Turkish (1) Strom 1998
    538-42del 1611del14 exon 8 English (1) Hardy 1999
    567delLF 1698delCTCTTT exon 8 English (1) Hardy 1999
    W648X 1944G>A exon 8 European (1); English (1) Inoue 1998;Hardy 1999
    Q667X 1999C>T exon 8 English (1) Hardy 1999
    Q668X 2002C>T exon 8 English (1) Hardy 1999
    Y669C A>G exon 8 German (1) Strom 1998
    C690R 2068T>C exon 8 English (1) Hardy 1999
    G695V G>T exon 8 European (1) Inoue 1998
    W700C 2100G>T exon 8 English (1) Hardy 1999
      2164ins24 exon 8 Portugese (1) Strom 1998
    P724L 2341C>T exon 8 Japanese (1) Inoue 1998
    G736S 2206G>A exon 8 English (1) Hardy 1999
    E752X 2254G>T exon 8 English (2) Hardy 1999
    FS812 2433delA exon 8 English (1) Hardy 1999
    Q819X 2455C>T exon 8 German (1) Strom 1998
    FS883 2648delTCTT exon 8 English (3) Hardy 1999
    P885L 2654C>T exon 8 Pakistani (1) Hardy 1999
    FS882 2812delTC exon 8 Japanese (1) Inoue 1998
             
  Affective Disorder A559T G>A exon 8 English (4) Furlong 1999
             
  Diabetes type I association R456H 1367G>A* exon 8 Japanese (55) Awata 2000
      *Mutation was found at lower incidence in control population  
    H611R 1831A>G* exon 8 Japanese (38) Awata 2000
      *Mutation was found at lower incidence in control population  
    I720V A>G* exon 8 Japanese (37) Awata 2000
      *Mutation was found at lower incidence in control population  
             
  Diabetes type II ? R653C C>T* exon 8 Japanese Awata 2000
      *Mutation was found at lower incidence in control population