GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
GJB3 DFNA2 R180X 538C>T   Chinese (1) Xia 1998
    E183K 547G>A   Chinese (1) Xia 1998
             
  Recessive Deafness 141delI 423delATT   Chinese (2) Liu 2000
    I141V 423A>G   Chinese (2) Liu 2000
             
  Neuropathy and Hearing Impairment R32W 1227C>T exon 2 Spanish (1) Lopez-Bigas 2001*
      *Mutation was also found in some controls      
      1610G>A exon 2 Spanish (1) Lopez-Bigas 2001
      1700C>T exon 2 Spanish (1) Lopez-Bigas 2001
    V200I 1731G>A exon 2 Spanish (1) Lopez-Bigas 2001
             
  Erythrokeratodermia Variabilis G12R 34G>C   Swiss (1) Richard 1998
    G12D 35G>A   European (1) Richard 1998
    R32W 1227C>T   N/A (1) Kelsell 2000
    L34P 101T>C   Israeli (1) Gottfried 2002
    R42P 125G>C   N/A (1); Italian (1) Wilgoss 1999; Richard 2000
    C86S 256T>A   Euroepan (2) Richard 1998
    F137L 409T>C   British (1) Richard 2000