GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
MITF Waardenburg II   IVS1+1G>A   N/A (1); S. Australian (1) Tassabehji 1994; 1995
      IVS4-2A>C   N/A (1) Tassabehji 1994
    R214X 760C>T exon 7 Northern European (1); Indian (1) Nobukini 1996; Lalwani 1998
    S250P T>C exon 8 N/A (1) Tassabehji 1995
    Y253C   exon 8   ???
    R259X 895 C>T exon 8 N/A (1) Nobukini 1996
    N278D A>G exon 8 N/A (1) Tassabehji 1995
    S298P T>C exon 9 N/A (1) Tassabehji 1995
    275 944delA exon 8 N/A (1) Morell 1997*
      *digenic with ocular albinism      
             
  Tietz Syndrome   IVS5 CG>GC   N/A (1) Smith 1997
    D207K   exon 6 N/A (1) Smith 1997
    N210K 600 C>G exon 6 US/Irish (1) Smith 2000
    217delR del3 exon 7 N/A (1) Tassebehji 1995