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. Author manuscript; available in PMC: 2010 Jul 23.
Published in final edited form as: Hum Mutat. 2005 Oct;26(4):396. doi: 10.1002/humu.9374

Table 3.

TMC1 polymorphisms that do not segregate within families

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.