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. 2010 May 4;285(28):21724–21735. doi: 10.1074/jbc.M110.120188

FIGURE 1.

FIGURE 1.

The S408F mutation resides within a highly conserved region of the pendrin protein and leads to deafness and vestibular dysfunction. A and B, sequencing of Slc26a4 from loop homozygote cDNA revealed a C to T (c.C1439T) mutation causing a serine to phenylalanine amino acid (aa) substitution at position 408 (p.S408F) of the pendrin protein. A hypothetical predicted topology model of pendrin suggests that the pendrin mutation resides in the ninth transmembrane domain. STAS, sulphate transporter and anti-sigma factor antagonist. ConSeq analysis shows that the loop mutation position is within a highly conserved amino acid with the highest value of nine. mPds, mouse Pds. C, auditory brainstem response test on 8-week-old mice reveals that Slc26a4loop mutants are profoundly deaf according to three frequencies that were tested, 8, 16, and 32 kHz. Output graphs from the 16-kHz examination are shown. n = 21.