Fig. 4.
Mouse TMC1. Tmc1 is predicted to encode an 87-kDa polypeptide with six transmembrane domains and cytosolic N- and C-termini. The TMC domain, a 120-amino-acid domain encompassing a cytoplasmic loop and the adjacent fifth transmembrane domain, is the most highly conserved region among the known TMC homologs. Both human and mouse TMC1 and TMC2 have a motif of alternating clusters of charged amino acids in their N-termini. The positions of the human DFNA36 mutations are numbered according to their orthologous locations in mouse TMC1 and indicated in red. P.M412K in Beethoven (Bth) mutant mice is an identical substitution in an orthologous position as the human p.M418K.