Table 3.
Exon | Nucleotide Change |
---|---|
1 | g.74G>A (-467 from the ATG) |
3 | g.[236 -67G>A (+) 322A>G (-219 from the ATG)] |
4 | g.346 -11delT |
6 | c.45C>T (synonymous) |
8 | c.237 -44G>A |
8 | c.241G>A (p.E81K) * |
10 | c.[535 +101A>G (+) 535 +106_113delCAAACAAA] |
14 | c.1029 +85T>C |
16 | c.1404 +32A>G |
17 | c.1457T>C (p.M486T) † |
22 | c.2208 +22A>G |
p.E81K does not segregate with the HI status in three families. Additionally p.E81K is at the intracellular glutamic acid (E)-rich region and is non-conserved.
p.M486T was found in the heterozygous state in two hearing individuals from two different families but not among the hearing-impaired. The residue is predicted to be intracellular and is non-conserved.