Table 3

Single nucleotide polymorphisms (SNPs) detected in the TMPRSS3 gene

SNP3-150 Location Amino acid
157G>A3-151 3-152 3-153 Exon 3V53I
331G>A3-152 Exon 5G111S
IVS5-13 A>G3-151 3-152 Intron 5
453G>A3-151 3-152 3-153 Exon 6V151V
IVS7-3 ins TA3-151 Intron 7
757 A>G3-151 3-152 Exon 8I253V
1128C>T3-152 Exon 11Y376Y
1367 G>A3-151 3-152 3-153 Exon 13
1451A>T3-152 Exon 13
  • 3-150 The nucleotide changes follow the nomenclature rules of Dunnen and Antonarakis.18 Position of coding SNPs (cSNPs) relates to TMPRSS3 cDNA (GenBank accession numberAB038157). Position of SNPs located in introns ofTMPRSS3 as previously described.7

  • 3-151 Observed in Pakistani DFNB8/B10 families.

  • 3-152 Observed in North American deaf subjects.

  • 3-153 Previously reported.7