Skip to main content
. Author manuscript; available in PMC: 2010 Jul 23.
Published in final edited form as: J Mol Med (Berl). 2005 Dec 31;84(3):226–231. doi: 10.1007/s00109-005-0015-3

Table 2.

TMIE sequence variants found to segregate with hearing impairment status within families

Exon Nucleotide change Protein change Domaina Evolutionary conservationb Allele frequencies among control chromosomesc
1 c.92A>G p.E31G EC Conserved in mouse only 0/110
3 c.212 –2A>C Exon skipping predicted N/A N/A 0/176
3 c.241C>T p.R81C IC Identical 0/122

IC Intracellular, EC extracellular, N/A not applicable

a

TMHMM v.2.0 predicted two membrane-spanning domains for the TMIE protein [11]

b

Human TMIE sequence compared with mouse Tmc1, CG15130-PA protein of Drosophila melanogaster, and hypothetical protein Y39A1C.1 of Caenorhabditis elegans

c

Control individuals were matched by country of origin. The c.212 –2A>C mutation was also negative in 122 Pakistani control chromosomes, and the c.241C>T (p.R81C) variant was not found in 176 control chromosomes from Jordan