Table 4.

Previously published sequence variants in the TMC1 gene^*

Exon	Nucleotide Change	Protein Change	Domain	Evolutionary Conservation	Predicted Functional Effect
Intron 3–5	IVS3_IVS5 del27kb†	Transcription initiation site removed	N/A	N/A	Exons 4 and 5 deleted
7	c. 100C>T	p.R34X	IC	Non-conserved	Truncated protein; Occurs at glutamic-acid rich N-terminus region; cAMP-and cGMP-dependent protein kinase phosphorylation site
8	c.295delA	Frameshift	N/A	N/A	Truncated protein
13	c.884 +1G>A‡	Splice donor	N/A	N/A	Exon 13 skipped
15	c. 1165C>T	p.R389X	EC	Non-conserved	Truncated protein
17	c. 1534C>T	p.R512X	IC	Non-conserved	Truncated protein
19	c. 1714G>A§	p.D572N	IC	Non-conserved	Benign; Casein kinase II phosphorylation site
20	c. 1960A>G	p.M654V	TM5	Non-conserved	Benign

^*TMC1 sequence changes were reported by Kurima et al. (2002) except for p.R389X at exon 15 (Meyer et al., 2005). Membrane-spanning domains, evolutionary conservation and functional effect were determined as described in Table 2.

^†Because the article did not specify the exact position at which this deletion occurred, it was not possible to rename this sequence variant according to the current nomenclature recommendations.

^‡The traditional nomenclature for c.884 +1G>A was IVS13 +1G>A.

^§c.1714G>A (p.D572N) was observed in a North American family with dominant hearing impairment.