Background

     Perchlorate Test

     SLC26A4 Mutations

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     Listed Mutations

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     Background

     EYA1 Mutations

        Isoform A

        Isoform B

        Isoform C

     SIX1 Mutations

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Everett and colleagues initially predicted that SLC26A4 spans the apical membrane of the thyrocyte 11 times, resulting in the carboxy terminus residing extracellularly (Everett et al 1997).  However, in 2000 Royaux et al noted that the carboxy terminus is intracellular and therefore an additional alpha helix likely spans the cell membrane (Royaux et al 2000).  We used ten transmembrane prediction programs which gave results spanning from eight to 13 transmembrane domains.  Four programs predicted 12 transmembrane domains, and MEMSAT2 (Psipred) results were used, as a recent review recommended this program as one of the most accurate protein structure prediction programs to date (Jones et al 1994, Simon et al 2001).  The twelve transmembrane domains are shown below with the location of all known mutations (90 mutations have been reported to date in 172 families).