SNP3-150 | Location | Amino acid |
157G>A3-151 3-152 3-153 | Exon 3 | V53I |
331G>A3-152 | Exon 5 | G111S |
IVS5-13 A>G3-151 3-152 | Intron 5 | |
453G>A3-151 3-152 3-153 | Exon 6 | V151V |
IVS7-3 ins TA3-151 | Intron 7 | |
757 A>G3-151 3-152 | Exon 8 | I253V |
1128C>T3-152 | Exon 11 | Y376Y |
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